Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	75
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD4 CL E G H	920	1678	OMIM:613949	Okt4 epitope deficiency		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	515
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent	10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	48
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	88
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent	11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	50
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease		78
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2	.	32
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0004332	Abnormal lymphocyte morphology	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004332	HP:0030150	Plasmacytosis	1	CL E G H
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0002843	Abnormal T cell morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0002846	Abnormal B cell morphology	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0002846	Abnormal B cell morphology	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0002843	Abnormal T cell morphology	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0002843	Abnormal T cell morphology	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0004332	HP:0002846	Abnormal B cell morphology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0002846	Abnormal B cell morphology	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0002843	Abnormal T cell morphology	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD4 CL E G H	920	1678	OMIM:613949	Okt4 epitope deficiency	.	1
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0002846	Abnormal B cell morphology	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0002843	Abnormal T cell morphology	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0004332	HP:0002846	Abnormal B cell morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0002846	Abnormal B cell morphology	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0004332	HP:0002846	Abnormal B cell morphology	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0002843	Abnormal T cell morphology	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0002843	Abnormal T cell morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0004332	HP:0002843	Abnormal T cell morphology	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0002846	Abnormal B cell morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0002846	Abnormal B cell morphology	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0002846	Abnormal B cell morphology	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0002846	Abnormal B cell morphology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0002843	Abnormal T cell morphology	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0002843	Abnormal T cell morphology	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0004332	HP:0002846	Abnormal B cell morphology	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0004332	HP:0002843	Abnormal T cell morphology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0004332	HP:0002843	Abnormal T cell morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0002846	Abnormal B cell morphology	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0004332	HP:0002846	Abnormal B cell morphology	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0002846	Abnormal B cell morphology	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0002843	Abnormal T cell morphology	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0002843	Abnormal T cell morphology	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0002843	Abnormal T cell morphology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0002846	Abnormal B cell morphology	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	KLHDC8B CL E G H	200942	28557	OMIM:236000	Lymphoma, hodgkin	.	1
HP:0004332	HP:0002843	Abnormal T cell morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0004332	HP:0002846	Abnormal B cell morphology	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0002843	Abnormal T cell morphology	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0002843	Abnormal T cell morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0002846	Abnormal B cell morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0002843	Abnormal T cell morphology	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004332	HP:0002843	Abnormal T cell morphology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0002846	Abnormal B cell morphology	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0002843	Abnormal T cell morphology	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0002846	Abnormal B cell morphology	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0004332	HP:0002846	Abnormal B cell morphology	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004332	HP:0002843	Abnormal T cell morphology	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0002846	Abnormal B cell morphology	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0004332	HP:0002843	Abnormal T cell morphology	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0002843	Abnormal T cell morphology	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040281 - Very frequent	52
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0004332	HP:0002843	Abnormal T cell morphology	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0002846	Abnormal B cell morphology	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome		948
HP:0004332	HP:0002846	Abnormal B cell morphology	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0002843	Abnormal T cell morphology	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0002846	Abnormal B cell morphology	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0002846	Abnormal B cell morphology	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0002843	Abnormal T cell morphology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0004332	HP:0002843	Abnormal T cell morphology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0004332	HP:0001922	Vacuolated lymphocytes	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0002843	Abnormal T cell morphology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0002843	Abnormal T cell morphology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040281 - Very frequent	49
HP:0004332	HP:0002843	Abnormal T cell morphology	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0004332	HP:0002846	Abnormal B cell morphology	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS		4
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0002843	Abnormal T cell morphology	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0002843	Abnormal T cell morphology	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0004332	HP:0012176	Abnormal natural killer cell morphology	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0002843	Abnormal T cell morphology	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0004332	HP:0002846	Abnormal B cell morphology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		11
HP:0004332	HP:0002843	Abnormal T cell morphology	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0002846	Abnormal B cell morphology	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0004332	HP:0002843	Abnormal T cell morphology	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0002843	Abnormal T cell morphology	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0004332	HP:0002846	Abnormal B cell morphology	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0002843	Abnormal T cell morphology	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0002843	Abnormal T cell morphology	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0004332	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0002843	Abnormal T cell morphology	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0040088	Abnormal lymphocyte count	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0004332	HP:0025617	Abnormal plasma cell count	2	CL E G H
HP:0004332	HP:4000034	Infection-ssociated lymphopenia	2	CL E G H
HP:0004332	HP:0030333	Abnormal alpha-beta T cell morphology	2	CL E G H
HP:0004332	HP:0011839	Abnormal T cell count	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0004332	HP:0001888	Lymphopenia	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0004332	HP:0011839	Abnormal T cell count	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0010975	Abnormal B cell count	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0004332	HP:0001888	Lymphopenia	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0004332	HP:0001888	Lymphopenia	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0004332	HP:0010975	Abnormal B cell count	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0004332	HP:0001888	Lymphopenia	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004332	HP:0001888	Lymphopenia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0004332	HP:0001888	Lymphopenia	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0004332	HP:0001888	Lymphopenia	2	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0004332	HP:0010975	Abnormal B cell count	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004332	HP:0001888	Lymphopenia	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0011839	Abnormal T cell count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0010975	Abnormal B cell count	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0001888	Lymphopenia	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0100827	Lymphocytosis	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0004332	HP:0011839	Abnormal T cell count	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0001888	Lymphopenia	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0004332	HP:0001888	Lymphopenia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0004332	HP:0010975	Abnormal B cell count	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0001888	Lymphopenia	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0011839	Abnormal T cell count	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0001888	Lymphopenia	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0004332	HP:0001888	Lymphopenia	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0010975	Abnormal B cell count	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0010975	Abnormal B cell count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0011839	Abnormal T cell count	2	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0001888	Lymphopenia	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004332	HP:0011839	Abnormal T cell count	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0001888	Lymphopenia	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0004332	HP:0001888	Lymphopenia	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0010975	Abnormal B cell count	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0001888	Lymphopenia	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0010975	Abnormal B cell count	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0100827	Lymphocytosis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004332	HP:0011839	Abnormal T cell count	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004332	HP:0010975	Abnormal B cell count	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0100827	Lymphocytosis	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0011839	Abnormal T cell count	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0001888	Lymphopenia	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0011839	Abnormal T cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0010975	Abnormal B cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0100827	Lymphocytosis	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0010975	Abnormal B cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0011839	Abnormal T cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0100827	Lymphocytosis	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0011839	Abnormal T cell count	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0001888	Lymphopenia	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0004332	HP:0001888	Lymphopenia	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0004332	HP:0010975	Abnormal B cell count	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0011839	Abnormal T cell count	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0001888	Lymphopenia	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0011839	Abnormal T cell count	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0004332	HP:0001888	Lymphopenia	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0004332	HP:0001888	Lymphopenia	2	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0004332	HP:0001888	Lymphopenia	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0004332	HP:0011839	Abnormal T cell count	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0004332	HP:0001888	Lymphopenia	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040284 - Very rare	24
HP:0004332	HP:0011839	Abnormal T cell count	2	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0001888	Lymphopenia	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0004332	HP:0011839	Abnormal T cell count	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0004332	HP:0011839	Abnormal T cell count	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0001888	Lymphopenia	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0011839	Abnormal T cell count	2	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004332	HP:0001888	Lymphopenia	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0010975	Abnormal B cell count	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0001888	Lymphopenia	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0004332	HP:0011839	Abnormal T cell count	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0001888	Lymphopenia	2	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0001888	Lymphopenia	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0004332	HP:0001888	Lymphopenia	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0004332	HP:0001888	Lymphopenia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0004332	HP:0001888	Lymphopenia	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0011839	Abnormal T cell count	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0001888	Lymphopenia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0004332	HP:0001888	Lymphopenia	2	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0004332	HP:0001888	Lymphopenia	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0004332	HP:0001888	Lymphopenia	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004332	HP:0010975	Abnormal B cell count	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0011839	Abnormal T cell count	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0001888	Lymphopenia	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0011839	Abnormal T cell count	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0001888	Lymphopenia	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0010975	Abnormal B cell count	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0001888	Lymphopenia	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0004332	HP:0001888	Lymphopenia	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0004332	HP:0001888	Lymphopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0004332	HP:0010975	Abnormal B cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0004332	HP:0011839	Abnormal T cell count	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0004332	HP:0001888	Lymphopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0011839	Abnormal T cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0010975	Abnormal B cell count	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0011839	Abnormal T cell count	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0001888	Lymphopenia	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0001888	Lymphopenia	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0001888	Lymphopenia	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0011839	Abnormal T cell count	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0004332	HP:0011839	Abnormal T cell count	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0004332	HP:0001888	Lymphopenia	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40	.	6
HP:0004332	HP:0001888	Lymphopenia	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0010975	Abnormal B cell count	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0011839	Abnormal T cell count	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0004332	HP:0011839	Abnormal T cell count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0001888	Lymphopenia	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0100827	Lymphocytosis	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0004332	HP:0001888	Lymphopenia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0004332	HP:0001888	Lymphopenia	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0004332	HP:0010975	Abnormal B cell count	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0100827	Lymphocytosis	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0011839	Abnormal T cell count	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0001888	Lymphopenia	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0001888	Lymphopenia	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0004332	HP:0011839	Abnormal T cell count	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0001888	Lymphopenia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0004332	HP:0001888	Lymphopenia	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0010975	Abnormal B cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0011839	Abnormal T cell count	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0011839	Abnormal T cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0100827	Lymphocytosis	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0100827	Lymphocytosis	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0010975	Abnormal B cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0011839	Abnormal T cell count	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0001888	Lymphopenia	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0011839	Abnormal T cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0001888	Lymphopenia	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004332	HP:0011839	Abnormal T cell count	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0010975	Abnormal B cell count	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0001888	Lymphopenia	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0010975	Abnormal B cell count	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0001888	Lymphopenia	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0100827	Lymphocytosis	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004332	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0004332	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0004332	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0001888	Lymphopenia	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0011839	Abnormal T cell count	2	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0011839	Abnormal T cell count	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0001888	Lymphopenia	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0004332	HP:0001888	Lymphopenia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0004332	HP:0011839	Abnormal T cell count	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0001888	Lymphopenia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0004332	HP:0010975	Abnormal B cell count	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0004332	HP:0001888	Lymphopenia	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0004332	HP:0001888	Lymphopenia	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0001888	Lymphopenia	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0004332	HP:0001888	Lymphopenia	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0004332	HP:0011839	Abnormal T cell count	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0004332	HP:0100827	Lymphocytosis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004332	HP:0011839	Abnormal T cell count	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004332	HP:0010975	Abnormal B cell count	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0001888	Lymphopenia	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0004332	HP:0001888	Lymphopenia	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0010975	Abnormal B cell count	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0001888	Lymphopenia	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004332	HP:0001888	Lymphopenia	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004332	HP:0010975	Abnormal B cell count	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004332	HP:0010975	Abnormal B cell count	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0001888	Lymphopenia	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0010975	Abnormal B cell count	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0001888	Lymphopenia	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0011839	Abnormal T cell count	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0001888	Lymphopenia	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0010975	Abnormal B cell count	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0010975	Abnormal B cell count	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0001888	Lymphopenia	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0010975	Abnormal B cell count	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0001888	Lymphopenia	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0010975	Abnormal B cell count	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0001888	Lymphopenia	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0011839	Abnormal T cell count	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0010975	Abnormal B cell count	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0011839	Abnormal T cell count	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0001888	Lymphopenia	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0001888	Lymphopenia	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0011839	Abnormal T cell count	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0001888	Lymphopenia	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0004332	HP:0010975	Abnormal B cell count	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0001888	Lymphopenia	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0001888	Lymphopenia	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0011839	Abnormal T cell count	2	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0001888	Lymphopenia	2	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0011839	Abnormal T cell count	2	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0011839	Abnormal T cell count	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0100827	Lymphocytosis	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0004332	HP:0001888	Lymphopenia	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0001888	Lymphopenia	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0004332	HP:0001888	Lymphopenia	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0004332	HP:0010975	Abnormal B cell count	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0011839	Abnormal T cell count	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0001888	Lymphopenia	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0001888	Lymphopenia	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0010975	Abnormal B cell count	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0011839	Abnormal T cell count	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0001888	Lymphopenia	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0011839	Abnormal T cell count	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0011839	Abnormal T cell count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0001888	Lymphopenia	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0004332	HP:0010975	Abnormal B cell count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0001888	Lymphopenia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0011839	Abnormal T cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0010975	Abnormal B cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0100827	Lymphocytosis	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0004332	HP:0001888	Lymphopenia	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0011839	Abnormal T cell count	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0001888	Lymphopenia	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0011839	Abnormal T cell count	2	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0011839	Abnormal T cell count	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0010975	Abnormal B cell count	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0011839	Abnormal T cell count	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0001888	Lymphopenia	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0011839	Abnormal T cell count	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0001888	Lymphopenia	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0011839	Abnormal T cell count	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0100827	Lymphocytosis	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0004332	HP:0001888	Lymphopenia	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0010975	Abnormal B cell count	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0001888	Lymphopenia	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0011839	Abnormal T cell count	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0010975	Abnormal B cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0001888	Lymphopenia	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0011839	Abnormal T cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0004332	HP:0001888	Lymphopenia	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0004332	HP:0001888	Lymphopenia	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0004332	HP:0001888	Lymphopenia	2	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0004332	HP:0001888	Lymphopenia	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0004332	HP:0011839	Abnormal T cell count	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0001888	Lymphopenia	2	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0010975	Abnormal B cell count	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0001888	Lymphopenia	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0010975	Abnormal B cell count	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004332	HP:0001888	Lymphopenia	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0004332	HP:0010975	Abnormal B cell count	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0011839	Abnormal T cell count	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0001888	Lymphopenia	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0004332	HP:0100827	Lymphocytosis	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0011839	Abnormal T cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0010975	Abnormal B cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0001888	Lymphopenia	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0004332	HP:0001888	Lymphopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0004332	HP:0010975	Abnormal B cell count	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004332	HP:0001888	Lymphopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004332	HP:0010975	Abnormal B cell count	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0001888	Lymphopenia	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0004332	HP:0011839	Abnormal T cell count	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0004332	HP:0001888	Lymphopenia	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0004332	HP:0100827	Lymphocytosis	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0004332	HP:0001888	Lymphopenia	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0011839	Abnormal T cell count	2	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0011839	Abnormal T cell count	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0001888	Lymphopenia	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0004332	HP:0001888	Lymphopenia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0004332	HP:0011839	Abnormal T cell count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0001888	Lymphopenia	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0004332	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0011839	Abnormal T cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0011839	Abnormal T cell count	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0010975	Abnormal B cell count	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0001888	Lymphopenia	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0001888	Lymphopenia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0011839	Abnormal T cell count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0011839	Abnormal T cell count	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0010975	Abnormal B cell count	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0001888	Lymphopenia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0004332	HP:0010975	Abnormal B cell count	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0001888	Lymphopenia	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0001888	Lymphopenia	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0004332	HP:0011839	Abnormal T cell count	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0010975	Abnormal B cell count	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0001888	Lymphopenia	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0011839	Abnormal T cell count	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0001888	Lymphopenia	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0010975	Abnormal B cell count	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0011839	Abnormal T cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0100827	Lymphocytosis	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0010975	Abnormal B cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0001888	Lymphopenia	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0100827	Lymphocytosis	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0010975	Abnormal B cell count	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0001888	Lymphopenia	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0004332	HP:0001888	Lymphopenia	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0004332	HP:0001888	Lymphopenia	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0004332	HP:0001888	Lymphopenia	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	HP:0040284 - Very rare	948
HP:0004332	HP:0001888	Lymphopenia	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare	948
HP:0004332	HP:0100827	Lymphocytosis	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0010975	Abnormal B cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0011839	Abnormal T cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0001888	Lymphopenia	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0010975	Abnormal B cell count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0001888	Lymphopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0001888	Lymphopenia	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0010975	Abnormal B cell count	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0011839	Abnormal T cell count	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0004332	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0004332	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0001888	Lymphopenia	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0004332	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0004332	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0004332	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0004332	HP:0001888	Lymphopenia	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0011839	Abnormal T cell count	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0010975	Abnormal B cell count	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0004332	HP:0011839	Abnormal T cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0010975	Abnormal B cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0001888	Lymphopenia	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0100827	Lymphocytosis	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0010975	Abnormal B cell count	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0011839	Abnormal T cell count	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0001888	Lymphopenia	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0100827	Lymphocytosis	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0010975	Abnormal B cell count	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0001888	Lymphopenia	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0011839	Abnormal T cell count	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0001888	Lymphopenia	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0011839	Abnormal T cell count	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0011839	Abnormal T cell count	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0001888	Lymphopenia	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0011839	Abnormal T cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0001888	Lymphopenia	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0010975	Abnormal B cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0001888	Lymphopenia	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0004332	HP:0100827	Lymphocytosis	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0004332	HP:0011839	Abnormal T cell count	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0001888	Lymphopenia	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0001888	Lymphopenia	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0004332	HP:0001888	Lymphopenia	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0004332	HP:0001888	Lymphopenia	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0011839	Abnormal T cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0010975	Abnormal B cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0001888	Lymphopenia	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0004332	HP:0100827	Lymphocytosis	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0004332	HP:0001888	Lymphopenia	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0004332	HP:0001888	Lymphopenia	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0004332	HP:0001888	Lymphopenia	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0010975	Abnormal B cell count	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0001888	Lymphopenia	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0004332	HP:0011839	Abnormal T cell count	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0001888	Lymphopenia	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0004332	HP:0010975	Abnormal B cell count	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0010975	Abnormal B cell count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0011839	Abnormal T cell count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040284 - Very rare	49
HP:0004332	HP:0001888	Lymphopenia	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0001888	Lymphopenia	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0010975	Abnormal B cell count	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0001888	Lymphopenia	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0004332	HP:0001888	Lymphopenia	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0004332	HP:0001888	Lymphopenia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0004332	HP:0001888	Lymphopenia	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0004332	HP:0010975	Abnormal B cell count	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0004332	HP:0001888	Lymphopenia	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0004332	HP:0001888	Lymphopenia	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0004332	HP:0001888	Lymphopenia	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0004332	HP:0001888	Lymphopenia	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0004332	HP:0001888	Lymphopenia	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0004332	HP:0011839	Abnormal T cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0001888	Lymphopenia	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0010975	Abnormal B cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0010975	Abnormal B cell count	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0001888	Lymphopenia	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0010975	Abnormal B cell count	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0011839	Abnormal T cell count	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0001888	Lymphopenia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0001888	Lymphopenia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0004332	HP:0001888	Lymphopenia	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0004332	HP:0001888	Lymphopenia	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0004332	HP:0001888	Lymphopenia	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0004332	HP:0010975	Abnormal B cell count	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0001888	Lymphopenia	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0004332	HP:0001888	Lymphopenia	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0004332	HP:0001888	Lymphopenia	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0004332	HP:0010975	Abnormal B cell count	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0001888	Lymphopenia	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0001888	Lymphopenia	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0004332	HP:0001888	Lymphopenia	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0004332	HP:0001888	Lymphopenia	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0004332	HP:0001888	Lymphopenia	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0004332	HP:0010975	Abnormal B cell count	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0004332	HP:0001888	Lymphopenia	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0004332	HP:0001888	Lymphopenia	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0010975	Abnormal B cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0040089	Abnormal natural killer cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0011839	Abnormal T cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0001888	Lymphopenia	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0004332	HP:0001888	Lymphopenia	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0004332	HP:0010975	Abnormal B cell count	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0001888	Lymphopenia	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0001888	Lymphopenia	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004332	HP:0001888	Lymphopenia	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0004332	HP:0001888	Lymphopenia	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0010975	Abnormal B cell count	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0011839	Abnormal T cell count	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0001888	Lymphopenia	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0004332	HP:0001888	Lymphopenia	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0004332	HP:0011839	Abnormal T cell count	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0011839	Abnormal T cell count	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0001888	Lymphopenia	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0004332	HP:0001888	Lymphopenia	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0004332	HP:0011839	Abnormal T cell count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0001888	Lymphopenia	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0010975	Abnormal B cell count	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0001888	Lymphopenia	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0004332	HP:0011839	Abnormal T cell count	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0001888	Lymphopenia	2	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0100827	Lymphocytosis	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0004332	HP:0001888	Lymphopenia	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0004332	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0001888	Lymphopenia	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0100827	Lymphocytosis	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0004332	HP:0001888	Lymphopenia	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0011839	Abnormal T cell count	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0001888	Lymphopenia	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0004332	HP:0030334	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology	3	CL E G H
HP:0004332	HP:0025619	Elevated plasma cell count	3	CL E G H
HP:0004332	HP:0025618	Reduced plasma cell count	3	CL E G H
HP:0004332	HP:0005403	T lymphocytopenia	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0004332	HP:0010976	B lymphocytopenia	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0004332	HP:0005403	T lymphocytopenia	3	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0004332	HP:0010976	B lymphocytopenia	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0004332	HP:0010976	B lymphocytopenia	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0004332	HP:0040218	Reduced natural killer cell count	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0010976	B lymphocytopenia	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0005403	T lymphocytopenia	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0004332	HP:0010976	B lymphocytopenia	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0040218	Reduced natural killer cell count	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0010976	B lymphocytopenia	3	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0010976	B lymphocytopenia	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004332	HP:0010976	B lymphocytopenia	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0100828	Increased T cell count	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0004332	HP:0005404	Increased B cell count	3	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0005404	Increased B cell count	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0005403	T lymphocytopenia	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0005404	Increased B cell count	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0005403	T lymphocytopenia	3	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0004332	HP:0005403	T lymphocytopenia	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0040218	Reduced natural killer cell count	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004332	HP:0010976	B lymphocytopenia	3	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0004332	HP:0005403	T lymphocytopenia	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0005403	T lymphocytopenia	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0010976	B lymphocytopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0004332	HP:0010976	B lymphocytopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0040218	Reduced natural killer cell count	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0004332	HP:0005403	T lymphocytopenia	3	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0004332	HP:0005403	T lymphocytopenia	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0004332	HP:0005403	T lymphocytopenia	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0004332	HP:0010976	B lymphocytopenia	3	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0040218	Reduced natural killer cell count	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0005403	T lymphocytopenia	3	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0040218	Reduced natural killer cell count	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0005403	T lymphocytopenia	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0005403	T lymphocytopenia	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0005404	Increased B cell count	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0005403	T lymphocytopenia	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0005404	Increased B cell count	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0005403	T lymphocytopenia	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0040218	Reduced natural killer cell count	3	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004332	HP:0010976	B lymphocytopenia	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0005403	T lymphocytopenia	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0010976	B lymphocytopenia	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0004332	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0005403	T lymphocytopenia	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0010976	B lymphocytopenia	3	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0004332	HP:0500033	Abnormal natural killer subset distribution	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0004332	HP:0100828	Increased T cell count	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0010976	B lymphocytopenia	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0010976	B lymphocytopenia	3	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0004332	HP:0010976	B lymphocytopenia	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0005403	T lymphocytopenia	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0010976	B lymphocytopenia	3	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0004332	HP:0010976	B lymphocytopenia	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0004332	HP:0010976	B lymphocytopenia	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0005403	T lymphocytopenia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0010976	B lymphocytopenia	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004332	HP:0005403	T lymphocytopenia	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0040218	Reduced natural killer cell count	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0040218	Reduced natural killer cell count	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0004332	HP:0005403	T lymphocytopenia	3	IL7 CL E G H	3574	6023	OMIM:618309	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0004332	HP:0005403	T lymphocytopenia	3	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0005403	T lymphocytopenia	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0005403	T lymphocytopenia	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0005403	T lymphocytopenia	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0010976	B lymphocytopenia	3	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0005403	T lymphocytopenia	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0500033	Abnormal natural killer subset distribution	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0005403	T lymphocytopenia	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040281 - Very frequent	140
HP:0004332	HP:0010976	B lymphocytopenia	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0004332	HP:0500033	Abnormal natural killer subset distribution	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004332	HP:0040218	Reduced natural killer cell count	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004332	HP:0005403	T lymphocytopenia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004332	HP:0010976	B lymphocytopenia	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0005403	T lymphocytopenia	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0005403	T lymphocytopenia	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0005403	T lymphocytopenia	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0010976	B lymphocytopenia	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0005403	T lymphocytopenia	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0040218	Reduced natural killer cell count	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0005403	T lymphocytopenia	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0010976	B lymphocytopenia	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0004332	HP:0040218	Reduced natural killer cell count	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0005403	T lymphocytopenia	3	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0010976	B lymphocytopenia	3	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0004332	HP:0010976	B lymphocytopenia	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0004332	HP:0005403	T lymphocytopenia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0004332	HP:0010976	B lymphocytopenia	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0004332	HP:0005404	Increased B cell count	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0010976	B lymphocytopenia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004332	HP:0010976	B lymphocytopenia	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0004332	HP:0005403	T lymphocytopenia	3	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0004332	HP:0040218	Reduced natural killer cell count	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0005403	T lymphocytopenia	3	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0040218	Reduced natural killer cell count	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0004332	HP:0005403	T lymphocytopenia	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004332	HP:0010976	B lymphocytopenia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004332	HP:0005403	T lymphocytopenia	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0040218	Reduced natural killer cell count	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0005403	T lymphocytopenia	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0010976	B lymphocytopenia	3	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0040218	Reduced natural killer cell count	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0005403	T lymphocytopenia	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0010976	B lymphocytopenia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0010976	B lymphocytopenia	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0010976	B lymphocytopenia	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0005403	T lymphocytopenia	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0005404	Increased B cell count	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0005404	Increased B cell count	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0005404	Increased B cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0040218	Reduced natural killer cell count	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0005403	T lymphocytopenia	3	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0005403	T lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0010976	B lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004332	HP:0010976	B lymphocytopenia	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0004332	HP:0005403	T lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0004332	HP:0005403	T lymphocytopenia	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0004332	HP:0005403	T lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0004332	HP:0005403	T lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0004332	HP:0010976	B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0004332	HP:0005403	T lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0005404	Increased B cell count	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0004332	HP:0005403	T lymphocytopenia	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0010976	B lymphocytopenia	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0005403	T lymphocytopenia	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0005403	T lymphocytopenia	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0005403	T lymphocytopenia	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0004332	HP:0005403	T lymphocytopenia	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0010976	B lymphocytopenia	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0040218	Reduced natural killer cell count	3	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004332	HP:0031545	Abnormally low T cell receptor excision circle level	3	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004332	HP:0040218	Reduced natural killer cell count	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0010976	B lymphocytopenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0005403	T lymphocytopenia	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0010976	B lymphocytopenia	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0005403	T lymphocytopenia	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0010976	B lymphocytopenia	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0010976	B lymphocytopenia	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0010976	B lymphocytopenia	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0040218	Reduced natural killer cell count	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0005403	T lymphocytopenia	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0010976	B lymphocytopenia	3	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0010976	B lymphocytopenia	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0010976	B lymphocytopenia	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0004332	HP:0010976	B lymphocytopenia	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0040218	Reduced natural killer cell count	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0025539	Abnormal B cell subset distribution	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0005403	T lymphocytopenia	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0010976	B lymphocytopenia	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0004332	HP:0005403	T lymphocytopenia	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0010976	B lymphocytopenia	3	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0005403	T lymphocytopenia	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0010976	B lymphocytopenia	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0005403	T lymphocytopenia	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0005403	T lymphocytopenia	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0005403	T lymphocytopenia	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0025540	Abnormal T cell subset distribution	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	4	CL E G H
HP:0004332	HP:0500272	Abnormal proportion of immature gamma-delta T cells	4	CL E G H
HP:0004332	HP:0030376	Abnormal proportion of immature B cells	4	CL E G H
HP:0004332	HP:0030335	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	4	CL E G H
HP:0004332	HP:0032127	Abnormal plasmablast proportion	4	CL E G H
HP:0004332	HP:0041080	Abnormal proportion of exhausted T cells	4	CL E G H
HP:0004332	HP:0030251	Absence of memory B cells	4	CL E G H
HP:0004332	HP:0030370	Abnormal proportion of naive B cells	4	CL E G H
HP:0004332	HP:0032577	Clonal T cell receptor rearrangement	4	CL E G H
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0030379	Abnormal proportion of transitional B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0032182	Abnormal proportion of memory T cells	4	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0004332	HP:0030252	Absent circulating B cells	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004332	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0002853	Increased proportion of HLA DR+ T cells	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	8
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	18
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent	24
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0004332	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:4000039	Reduced proportion of mucosal-associated invariant T cells	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0002853	Increased proportion of HLA DR+ T cells	4	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0002853	Increased proportion of HLA DR+ T cells	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0030252	Absent circulating B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0008165	Decreased helper T cell proportion	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0004332	HP:0500263	Abnormal helper T cell proportion	4	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0040219	Absent natural killer cells	4	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0030252	Absent circulating B cells	4	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0004332	HP:0031396	Abnormal proportion of naive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0040219	Absent natural killer cells	4	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004332	HP:0040219	Absent natural killer cells	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004332	HP:0500269	Abnormal proportion of gamma-delta T cells	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0500269	Abnormal proportion of gamma-delta T cells	4	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0004332	HP:0032182	Abnormal proportion of memory T cells	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0030379	Abnormal proportion of transitional B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0032182	Abnormal proportion of memory T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0031396	Abnormal proportion of naive T cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0030379	Abnormal proportion of transitional B cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0004332	HP:0005365	Severe B lymphocytopenia	4	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0004332	HP:0045080	Decreased proportion of CD3-positive T cells	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0004332	HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0031396	Abnormal proportion of naive T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0032182	Abnormal proportion of memory T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0030252	Absent circulating B cells	4	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004332	HP:0031396	Abnormal proportion of naive T cells	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0004332	HP:0030252	Absent circulating B cells	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004332	HP:0031396	Abnormal proportion of naive T cells	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0032182	Abnormal proportion of memory T cells	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0030373	Abnormal proportion of memory B cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0031392	Abnormal proportion of CD4-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	4	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0031394	Abnormal CD4:CD8 ratio	4	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0031393	Abnormal proportion of CD8-positive T cells	4	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	5	CL E G H
HP:0004332	HP:0032129	Decreased proportion of plasmablasts	5	CL E G H
HP:0004332	HP:0500273	Increased proportion of immature gamma-delta T cells	5	CL E G H
HP:0004332	HP:0030377	Increased proportion of immature B cells	5	CL E G H
HP:0004332	HP:0410379	Abnormal proportion of CD4-positive, alpha-beta memory T cells	5	CL E G H
HP:0004332	HP:0030336	Absence of CD4-positive, CD25-positive regulatory T cells	5	CL E G H
HP:0004332	HP:0032128	Increased proportion of plasmablasts	5	CL E G H
HP:0004332	HP:0020112	Increased proportion of CD4+CD25+ regulatory T cells	5	CL E G H
HP:0004332	HP:0031398	Increased proportion of naive T cells	5	CL E G H
HP:0004332	HP:0500271	Decreased proportion of gamma-delta T cells	5	CL E G H
HP:0004332	HP:0030375	Increased proportion of memory B cells	5	CL E G H
HP:0004332	HP:0025623	Abnormal proportion of CD4+ effector memory cells	5	CL E G H
HP:0004332	HP:0500264	Increased helper T cell proportion	5	CL E G H
HP:0004332	HP:0030372	Decreased proportion of naive B cells	5	CL E G H
HP:0004332	HP:0410374	Abnormal proportion of naive CD8 T cells	5	CL E G H
HP:0004332	HP:0030371	Increased proportion of naive B cells	5	CL E G H
HP:0004332	HP:0500274	Decreased proportion of immature gamma-delta T cells	5	CL E G H
HP:0004332	HP:0030380	Decreased proportion of transitional B cells	5	CL E G H
HP:0004332	HP:0032124	Abnormal proportion of unswitched memory B cells	5	CL E G H
HP:0004332	HP:0030378	Decreased proportion of immature B cells	5	CL E G H
HP:0004332	HP:0031514	Increased proportion of exhausted T cells	5	CL E G H
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0004332	HP:0030381	Increased proportion of transitional B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0004332	HP:0032183	Decreased proportion of memory T cells	5	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0004332	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0004332	HP:0005422	Absence of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial		4
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0008165	Decreased helper T cell proportion	5	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0004332	HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0031397	Decreased proportion of naive T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0004332	HP:0500270	Increased proportion of gamma-delta T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0004332	HP:0500270	Increased proportion of gamma-delta T cells	5	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004332	HP:0032184	Increased proportion of memory T cells	5	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0032219	Increased proportion of CD4-positive T cells	5	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0030381	Increased proportion of transitional B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0032183	Decreased proportion of memory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0030381	Increased proportion of transitional B cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0031397	Decreased proportion of naive T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0410373	Abnormal proportion of naive CD4 T cells	5	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0033221	Increased CD4:CD8 ratio	5	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0004332	HP:0410373	Abnormal proportion of naive CD4 T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0032184	Increased proportion of memory T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0031397	Decreased proportion of naive T cells	5	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0031397	Decreased proportion of naive T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0004332	HP:0410373	Abnormal proportion of naive CD4 T cells	5	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0030383	Abnormal proportion of marginal zone B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0004332	HP:0031397	Decreased proportion of naive T cells	5	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004332	HP:0032183	Decreased proportion of memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0032184	Increased proportion of memory T cells	5	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0030386	Abnormal proportion of class-switched memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0030374	Decreased proportion of memory B cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0033222	Decreased CD4:CD8 ratio	5	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0032218	Decreased proportion of CD4-positive T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0500267	Abnormal proportion of CD4-positive helper T cells	5	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0004332	HP:0033221	Increased CD4:CD8 ratio	5	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0004332	HP:0005422	Absence of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0004332	HP:0005415	Decreased proportion of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0005422	Absence of CD8-positive T cells	5	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0025625	Elevated proportion of CD4+ effector memory T cells	6	CL E G H
HP:0004332	HP:0410391	Increased proportion of CD4-positive, alpha-beta memory T cells	6	CL E G H
HP:0004332	HP:0410376	Increased proportion of naive CD8 T cells	6	CL E G H
HP:0004332	HP:0025624	Reduced proportion of CD4+ effector memory T cells	6	CL E G H
HP:0004332	HP:0410375	Increased proportion of naive CD4 T cells	6	CL E G H
HP:0004332	HP:0030387	Increased proportion of class-switched memory B cells	6	CL E G H
HP:0004332	HP:0032126	Decreased proportion of unswitched memory B cells	6	CL E G H
HP:0004332	HP:0025620	Abnormal proportion of CD4+ central memory cells	6	CL E G H
HP:0004332	HP:0500274	Decreased proportion of immature gamma-delta T cells	6	CL E G H
HP:0004332	HP:0030385	Increased proportion of marginal zone B cells	6	CL E G H
HP:0004332	HP:0410384	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	6	CL E G H
HP:0004332	HP:0032125	Increased proportion of unswitched memory B cells	6	CL E G H
HP:0004332	HP:0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	6	CL E G H
HP:0004332	HP:0500273	Increased proportion of immature gamma-delta T cells	6	CL E G H
HP:0004332	HP:0410381	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	6	CL E G H
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0004332	HP:0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	6	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0004332	HP:0005422	Absence of CD8-positive T cells	6	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0004332	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	6	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0410377	Decreased proportion of naive CD8 T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0410378	Decreased proportion of naive CD4 T cells	6	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0004332	HP:0410378	Decreased proportion of naive CD4 T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0410377	Decreased proportion of naive CD8 T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0410377	Decreased proportion of naive CD8 T cells	6	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0030384	Decreased proportion of marginal zone B cells	6	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0004332	HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	6	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0030388	Decreased proportion of class-switched memory B cells	6	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0004332	HP:0005407	Decreased proportion of CD4-positive helper T cells	6	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0004332	HP:0005422	Absence of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0004332	HP:0005422	Absence of CD8-positive T cells	6	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0004332	HP:0410393	Increased proportion of central memory CD4-positive, alpha-beta T cells	7	CL E G H
HP:0004332	HP:0410390	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0004332	HP:0410389	Decreased proportion of central memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0004332	HP:0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	7	CL E G H
HP:0004332	HP:0410394	Increased proportion of effector memory CD4-positive, alpha-beta T cells	7	CL E G H
HP:0004332	HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	7	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0004332	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	7	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004332	HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	7	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0004332	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0004332	HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	7	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2