Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the immune system (HP:0002715)help
Parent Node:
expand
Abnormality of immune system physiology (HP:0010978)help
..Starting node
..expand
Immunodeficiency (HP:0002721)help
Term ID: 2721
Name: Immunodeficiency
Synonym: Decreased immune function; Immune deficiency
Definition: Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Comments:
Reference: HP:0002721
Genes and Diseases:
 
       Child Nodes:
........expandHumoral immunodeficiency (HP:0005363) help
........expandCellular immunodeficiency (HP:0005374) help
................... HP:0005352 Severe T-cell immunodeficiency
........expandCombined immunodeficiency (HP:0005387) help
................... HP:0004430 Severe combined immunodeficiency

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormal MHC II surface expression (HP:0031389) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmune dysregulation (HP:0002958) help
..expandImmunologic hypersensitivity (HP:0100326) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) help
..expandSepsis (HP:0100806) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002721HP:0002721Immunodeficiency0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0002721HP:0002721Immunodeficiency0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0002721HP:0002721Immunodeficiency0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0002721HP:0002721Immunodeficiency0ADA CL E G H100186ORPHA:39041Omenn syndrome75
HP:0002721HP:0002721Immunodeficiency0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002721HP:0002721Immunodeficiency0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0002721HP:0002721Immunodeficiency0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiencyHP:0040281 - Very frequent216
HP:0002721HP:0002721Immunodeficiency0AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 2.58
HP:0002721HP:0002721Immunodeficiency0AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0002721HP:0002721Immunodeficiency0AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0002721HP:0002721Immunodeficiency0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0002721HP:0002721Immunodeficiency0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0002721HP:0002721Immunodeficiency0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040284 - Very rare25
HP:0002721HP:0002721Immunodeficiency0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0002721HP:0002721Immunodeficiency0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0002721HP:0002721Immunodeficiency0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0002721HP:0002721Immunodeficiency0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0002721HP:0002721Immunodeficiency0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040283 - Occasional169
HP:0002721HP:0002721Immunodeficiency0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0002721HP:0002721Immunodeficiency0BCL10 CL E G H8915989OMIM:616098IMMUNODEFICIENCY 37; IMD3718
HP:0002721HP:0002721Immunodeficiency0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0002721HP:0002721Immunodeficiency0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0002721HP:0002721Immunodeficiency0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0002721HP:0002721Immunodeficiency0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0002721HP:0002721Immunodeficiency0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0002721HP:0002721Immunodeficiency0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0002721HP:0002721Immunodeficiency0CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency.45
HP:0002721HP:0002721Immunodeficiency0CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive.45
HP:0002721HP:0002721Immunodeficiency0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0002721HP:0002721Immunodeficiency0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent38
HP:0002721HP:0002721Immunodeficiency0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0002721HP:0002721Immunodeficiency0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0002721HP:0002721Immunodeficiency0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0002721HP:0002721Immunodeficiency0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0002721HP:0002721Immunodeficiency0CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0002721HP:0002721Immunodeficiency0CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0002721HP:0002721Immunodeficiency0CD3G CL E G H9171675OMIM:615607Immunodeficiency 17.19
HP:0002721HP:0002721Immunodeficiency0CD40 CL E G H95811919OMIM:606843Immunodeficiency with hyper-igm, type 3.27
HP:0002721HP:0002721Immunodeficiency0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0002721HP:0002721Immunodeficiency0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0002721HP:0002721Immunodeficiency0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0002721HP:0002721Immunodeficiency0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0002721HP:0002721Immunodeficiency0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0002721HP:0002721Immunodeficiency0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0002721HP:0002721Immunodeficiency0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040281 - Very frequent4
HP:0002721HP:0002721Immunodeficiency0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0002721HP:0002721Immunodeficiency0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040283 - Occasional2
HP:0002721HP:0002721Immunodeficiency0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0002721HP:0002721Immunodeficiency0CHD7 CL E G H5563620626ORPHA:39041Omenn syndrome515
HP:0002721HP:0002721Immunodeficiency0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0002721HP:0002721Immunodeficiency0CORO1A CL E G H111512252OMIM:615401Immunodeficiency 8.7
HP:0002721HP:0002721Immunodeficiency0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0002721HP:0002721Immunodeficiency0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0002721HP:0002721Immunodeficiency0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0002721HP:0002721Immunodeficiency0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0002721HP:0002721Immunodeficiency0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0002721HP:0002721Immunodeficiency0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002721HP:0002721Immunodeficiency0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002721HP:0002721Immunodeficiency0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0002721HP:0002721Immunodeficiency0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0002721HP:0002721Immunodeficiency0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0002721HP:0002721Immunodeficiency0CTPS1 CL E G H15032519OMIM:615897IMMUNODEFICIENCY 24; IMD242
HP:0002721HP:0002721Immunodeficiency0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040284 - Very rare273
HP:0002721HP:0002721Immunodeficiency0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0002721HP:0002721Immunodeficiency0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0002721HP:0002721Immunodeficiency0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0002721HP:0002721Immunodeficiency0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndrome94
HP:0002721HP:0002721Immunodeficiency0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0002721HP:0002721Immunodeficiency0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0002721HP:0002721Immunodeficiency0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0002721HP:0002721Immunodeficiency0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0002721HP:0002721Immunodeficiency0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0002721HP:0002721Immunodeficiency0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040281 - Very frequent79
HP:0002721HP:0002721Immunodeficiency0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0002721HP:0002721Immunodeficiency0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 40.6
HP:0002721HP:0002721Immunodeficiency0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0002721HP:0002721Immunodeficiency0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0002721HP:0002721Immunodeficiency0EPG5 CL E G H5772429331ORPHA:1493Vici syndrome40
HP:0002721HP:0002721Immunodeficiency0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0002721HP:0002721Immunodeficiency0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002721HP:0002721Immunodeficiency0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002721HP:0002721Immunodeficiency0FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0002721HP:0002721Immunodeficiency0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0002721HP:0002721Immunodeficiency0FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiencyHP:0040281 - Very frequent54
HP:0002721HP:0002721Immunodeficiency0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY54
HP:0002721HP:0002721Immunodeficiency0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0002721HP:0002721Immunodeficiency0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0002721HP:0002721Immunodeficiency0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0002721HP:0002721Immunodeficiency0HBB CL E G H30434827ORPHA:231249Hemoglobin E-beta-thalassemia syndromeHP:0040281 - Very frequent580
HP:0002721HP:0002721Immunodeficiency0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040281 - Very frequent6
HP:0002721HP:0002721Immunodeficiency0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0002721HP:0002721Immunodeficiency0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0002721HP:0002721Immunodeficiency0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0002721HP:0002721Immunodeficiency0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0002721HP:0002721Immunodeficiency0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0002721HP:0002721Immunodeficiency0IFNGR1 CL E G H34595439OMIM:615978Immunodeficiency 27B.60
HP:0002721HP:0002721Immunodeficiency0IFNGR2 CL E G H34605440OMIM:614889Immunodeficiency 28.38
HP:0002721HP:0002721Immunodeficiency0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0002721HP:0002721Immunodeficiency0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0002721HP:0002721Immunodeficiency0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0002721HP:0002721Immunodeficiency0IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0002721HP:0002721Immunodeficiency0IKBKG CL E G H85175961OMIM:300636Immunodeficiency 33.52
HP:0002721HP:0002721Immunodeficiency0IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0002721HP:0002721Immunodeficiency0IL12B CL E G H35935970OMIM:614890Immunodeficiency 29.31
HP:0002721HP:0002721Immunodeficiency0IL12RB1 CL E G H35945971OMIM:614891Immunodeficiency 30.46
HP:0002721HP:0002721Immunodeficiency0IL12RB1 CL E G H35945971ORPHA:319552Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiencyHP:0040281 - Very frequent46
HP:0002721HP:0002721Immunodeficiency0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0002721HP:0002721Immunodeficiency0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0002721HP:0002721Immunodeficiency0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0002721HP:0002721Immunodeficiency0IL2RG CL E G H35616010OMIM:312863Combined immunodeficiency, X-linked48
HP:0002721HP:0002721Immunodeficiency0IL2RG CL E G H35616010ORPHA:39041Omenn syndrome48
HP:0002721HP:0002721Immunodeficiency0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002721HP:0002721Immunodeficiency0IL7R CL E G H35756024ORPHA:39041Omenn syndrome94
HP:0002721HP:0002721Immunodeficiency0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0002721HP:0002721Immunodeficiency0IRAK4 CL E G H5113517967OMIM:607676Immunodeficiency 67.58
HP:0002721HP:0002721Immunodeficiency0IRAK4 CL E G H5113517967ORPHA:70592Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyHP:0040281 - Very frequent58
HP:0002721HP:0002721Immunodeficiency0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent4
HP:0002721HP:0002721Immunodeficiency0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0002721HP:0002721Immunodeficiency0IRF7 CL E G H36656122OMIM:616345Immunodeficiency 39.2
HP:0002721HP:0002721Immunodeficiency0IRF8 CL E G H33945358OMIM:614893IMMUNODEFICIENCY 32A; IMD32A5
HP:0002721HP:0002721Immunodeficiency0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0002721HP:0002721Immunodeficiency0ISG15 CL E G H96364053OMIM:616126Immunodeficiency 38 with basal ganglia calcification.4
HP:0002721HP:0002721Immunodeficiency0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002721HP:0002721Immunodeficiency0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0002721HP:0002721Immunodeficiency0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0002721HP:0002721Immunodeficiency0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0002721HP:0002721Immunodeficiency0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0002721HP:0002721Immunodeficiency0LAMTOR2 CL E G H2895629796OMIM:610798Immunodeficiency due to defect in mapbp-interacting protein.1
HP:0002721HP:0002721Immunodeficiency0LAMTOR2 CL E G H2895629796ORPHA:90023Primary immunodeficiency syndrome due to LAMTOR2 deficiencyHP:0040281 - Very frequent1
HP:0002721HP:0002721Immunodeficiency0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0002721HP:0002721Immunodeficiency0LCK CL E G H39326524OMIM:615758Immunodeficiency 22.1
HP:0002721HP:0002721Immunodeficiency0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0002721HP:0002721Immunodeficiency0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002721HP:0002721Immunodeficiency0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040281 - Very frequent88
HP:0002721HP:0002721Immunodeficiency0LIG4 CL E G H39816601ORPHA:39041Omenn syndrome88
HP:0002721HP:0002721Immunodeficiency0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040283 - Occasional11
HP:0002721HP:0002721Immunodeficiency0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002721HP:0002721Immunodeficiency0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0002721HP:0002721Immunodeficiency0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0002721HP:0002721Immunodeficiency0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0002721HP:0002721Immunodeficiency0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0002721HP:0002721Immunodeficiency0MALT1 CL E G H108926819OMIM:615468Immunodeficiency 12.6
HP:0002721HP:0002721Immunodeficiency0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0002721HP:0002721Immunodeficiency0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040281 - Very frequent136
HP:0002721HP:0002721Immunodeficiency0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002721HP:0002721Immunodeficiency0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0002721HP:0002721Immunodeficiency0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002721HP:0002721Immunodeficiency0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040283 - Occasional7
HP:0002721HP:0002721Immunodeficiency0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0002721HP:0002721Immunodeficiency0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0002721HP:0002721Immunodeficiency0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0002721HP:0002721Immunodeficiency0MS4A1 CL E G H9317315OMIM:613495Immunodeficiency, common variable, 51
HP:0002721HP:0002721Immunodeficiency0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia5
HP:0002721HP:0002721Immunodeficiency0MYC CL E G H46097553OMIM:113970Burkitt lymphoma.11
HP:0002721HP:0002721Immunodeficiency0MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiencyHP:0040281 - Very frequent9
HP:0002721HP:0002721Immunodeficiency0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0002721HP:0002721Immunodeficiency0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0002721HP:0002721Immunodeficiency0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0002721HP:0002721Immunodeficiency0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent7
HP:0002721HP:0002721Immunodeficiency0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0002721HP:0002721Immunodeficiency0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent11
HP:0002721HP:0002721Immunodeficiency0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002721HP:0002721Immunodeficiency0NHEJ1 CL E G H7984025737ORPHA:169079Cernunnos-XLF deficiencyHP:0040283 - Occasional20
HP:0002721HP:0002721Immunodeficiency0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0002721HP:0002721Immunodeficiency0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0002721HP:0002721Immunodeficiency0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0002721HP:0002721Immunodeficiency0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0002721HP:0002721Immunodeficiency0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0002721HP:0002721Immunodeficiency0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0002721HP:0002721Immunodeficiency0OTULIN CL E G H9026825118OMIM:6199863
HP:0002721HP:0002721Immunodeficiency0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0002721HP:0002721Immunodeficiency0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent26
HP:0002721HP:0002721Immunodeficiency0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 23.15
HP:0002721HP:0002721Immunodeficiency0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0002721HP:0002721Immunodeficiency0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent11
HP:0002721HP:0002721Immunodeficiency0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002721HP:0002721Immunodeficiency0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0002721HP:0002721Immunodeficiency0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0002721HP:0002721Immunodeficiency0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0002721HP:0002721Immunodeficiency0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0002721HP:0002721Immunodeficiency0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36.43
HP:0002721HP:0002721Immunodeficiency0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiency52
HP:0002721HP:0002721Immunodeficiency0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002721HP:0002721Immunodeficiency0POLE CL E G H54269177OMIM:615139Facial dysmorphism, immunodeficiency, livedo, and short stature.1129
HP:0002721HP:0002721Immunodeficiency0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0002721HP:0002721Immunodeficiency0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent10
HP:0002721HP:0002721Immunodeficiency0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0002721HP:0002721Immunodeficiency0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0002721HP:0002721Immunodeficiency0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0002721HP:0002721Immunodeficiency0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0002721HP:0002721Immunodeficiency0RAC2 CL E G H58809802ORPHA:183707Neutrophil immunodeficiency syndromeHP:0040281 - Very frequent9
HP:0002721HP:0002721Immunodeficiency0RAG1 CL E G H58969831OMIM:233650Combined cellular and humoral immune defects with granulomas127
HP:0002721HP:0002721Immunodeficiency0RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiencyHP:0040281 - Very frequent127
HP:0002721HP:0002721Immunodeficiency0RAG1 CL E G H58969831ORPHA:39041Omenn syndrome127
HP:0002721HP:0002721Immunodeficiency0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive127
HP:0002721HP:0002721Immunodeficiency0RAG2 CL E G H58979832OMIM:233650Combined cellular and humoral immune defects with granulomas50
HP:0002721HP:0002721Immunodeficiency0RAG2 CL E G H58979832ORPHA:39041Omenn syndrome50
HP:0002721HP:0002721Immunodeficiency0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive50
HP:0002721HP:0002721Immunodeficiency0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiencyHP:0040283 - Occasional10
HP:0002721HP:0002721Immunodeficiency0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0002721HP:0002721Immunodeficiency0RMRP CL E G H602310031ORPHA:39041Omenn syndrome37
HP:0002721HP:0002721Immunodeficiency0RNF168 CL E G H16591826661OMIM:611943Riddle syndrome7
HP:0002721HP:0002721Immunodeficiency0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040281 - Very frequent7
HP:0002721HP:0002721Immunodeficiency0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0002721HP:0002721Immunodeficiency0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0002721HP:0002721Immunodeficiency0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0002721HP:0002721Immunodeficiency0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent77
HP:0002721HP:0002721Immunodeficiency0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0002721HP:0002721Immunodeficiency0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0002721HP:0002721Immunodeficiency0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0002721HP:0002721Immunodeficiency0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0002721HP:0002721Immunodeficiency0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0002721HP:0002721Immunodeficiency0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0002721HP:0002721Immunodeficiency0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0002721HP:0002721Immunodeficiency0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0002721HP:0002721Immunodeficiency0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0002721HP:0002721Immunodeficiency0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040281 - Very frequent
HP:0002721HP:0002721Immunodeficiency0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0002721HP:0002721Immunodeficiency0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040281 - Very frequent
HP:0002721HP:0002721Immunodeficiency0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040283 - Occasional101
HP:0002721HP:0002721Immunodeficiency0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0002721HP:0002721Immunodeficiency0SP110 CL E G H34315401OMIM:235550Hepatic venoocclusive disease with immunodeficiency.49
HP:0002721HP:0002721Immunodeficiency0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndromeHP:0040283 - Occasional19
HP:0002721HP:0002721Immunodeficiency0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0002721HP:0002721Immunodeficiency0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0002721HP:0002721Immunodeficiency0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0002721HP:0002721Immunodeficiency0STAT1 CL E G H677211362OMIM:614892Immunodeficiency 31A.89
HP:0002721HP:0002721Immunodeficiency0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C.89
HP:0002721HP:0002721Immunodeficiency0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0002721HP:0002721Immunodeficiency0STK4 CL E G H678911408OMIM:614868T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS.4
HP:0002721HP:0002721Immunodeficiency0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndrome52
HP:0002721HP:0002721Immunodeficiency0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional20
HP:0002721HP:0002721Immunodeficiency0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0002721HP:0002721Immunodeficiency0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0002721HP:0002721Immunodeficiency0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0002721HP:0002721Immunodeficiency0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0002721HP:0002721Immunodeficiency0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent238
HP:0002721HP:0002721Immunodeficiency0TFRC CL E G H703711763OMIM:616740Immunodeficiency 46.1
HP:0002721HP:0002721Immunodeficiency0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional6
HP:0002721HP:0002721Immunodeficiency0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0002721HP:0002721Immunodeficiency0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent60
HP:0002721HP:0002721Immunodeficiency0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional3
HP:0002721HP:0002721Immunodeficiency0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent32
HP:0002721HP:0002721Immunodeficiency0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0002721HP:0002721Immunodeficiency0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent12
HP:0002721HP:0002721Immunodeficiency0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0002721HP:0002721Immunodeficiency0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0002721HP:0002721Immunodeficiency0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0002721HP:0002721Immunodeficiency0TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 16.2
HP:0002721HP:0002721Immunodeficiency0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040281 - Very frequent1
HP:0002721HP:0002721Immunodeficiency0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0002721HP:0002721Immunodeficiency0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0002721HP:0002721Immunodeficiency0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional2
HP:0002721HP:0002721Immunodeficiency0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent26
HP:0002721HP:0002721Immunodeficiency0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002721HP:0002721Immunodeficiency0TYK2 CL E G H729712440OMIM:611521Immunodeficiency 35.77
HP:0002721HP:0002721Immunodeficiency0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0002721HP:0002721Immunodeficiency0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0002721HP:0002721Immunodeficiency0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0002721HP:0002721Immunodeficiency0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional5
HP:0002721HP:0002721Immunodeficiency0UNG CL E G H737412572OMIM:608106Immunodeficiency with hyper-igm, type 5.44
HP:0002721HP:0002721Immunodeficiency0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0002721HP:0002721Immunodeficiency0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0002721HP:0002721Immunodeficiency0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0002721HP:0002721Immunodeficiency0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0002721HP:0002721Immunodeficiency0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0002721HP:0002721Immunodeficiency0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0002721HP:0002721Immunodeficiency0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0002721HP:0002721Immunodeficiency0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0002721HP:0002721Immunodeficiency0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2.81
HP:0002721HP:0002721Immunodeficiency0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040281 - Very frequent9
HP:0002721HP:0002721Immunodeficiency0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0002721HP:0002721Immunodeficiency0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040281 - Very frequent9
HP:0002721HP:0002721Immunodeficiency0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0002721HP:0002721Immunodeficiency0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002721HP:0005387Combined immunodeficiency1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0002721HP:0005374Cellular immunodeficiency1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0002721HP:0005387Combined immunodeficiency1ADA CL E G H100186ORPHA:39041Omenn syndrome75
HP:0002721HP:0005387Combined immunodeficiency1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002721HP:0005387Combined immunodeficiency1AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0002721HP:0005374Cellular immunodeficiency1AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0002721HP:0005387Combined immunodeficiency1AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0002721HP:0005374Cellular immunodeficiency1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0002721HP:0005374Cellular immunodeficiency1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0002721HP:0005387Combined immunodeficiency1BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0002721HP:0005387Combined immunodeficiency1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0002721HP:0005387Combined immunodeficiency1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0002721HP:0005387Combined immunodeficiency1CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0002721HP:0005374Cellular immunodeficiency1CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040282 - Frequent4
HP:0002721HP:0005387Combined immunodeficiency1CHD7 CL E G H5563620626ORPHA:39041Omenn syndrome515
HP:0002721HP:0005387Combined immunodeficiency1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0002721HP:0005363Humoral immunodeficiency1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0002721HP:0005374Cellular immunodeficiency1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0002721HP:0005374Cellular immunodeficiency1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0002721HP:0005363Humoral immunodeficiency1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0002721HP:0005374Cellular immunodeficiency1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0002721HP:0005387Combined immunodeficiency1DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndrome94
HP:0002721HP:0005387Combined immunodeficiency1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0002721HP:0005374Cellular immunodeficiency1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0002721HP:0005374Cellular immunodeficiency1DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040282 - Frequent79
HP:0002721HP:0005387Combined immunodeficiency1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0002721HP:0005374Cellular immunodeficiency1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0002721HP:0005363Humoral immunodeficiency1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0002721HP:0005374Cellular immunodeficiency1EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0002721HP:0005387Combined immunodeficiency1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002721HP:0005387Combined immunodeficiency1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002721HP:0005374Cellular immunodeficiency1FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY54
HP:0002721HP:0005374Cellular immunodeficiency1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0002721HP:0005374Cellular immunodeficiency1HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040282 - Frequent6
HP:0002721HP:0005387Combined immunodeficiency1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0002721HP:0005387Combined immunodeficiency1IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0002721HP:0005387Combined immunodeficiency1IL2RG CL E G H35616010OMIM:312863Combined immunodeficiency, X-linked.48
HP:0002721HP:0005387Combined immunodeficiency1IL2RG CL E G H35616010ORPHA:39041Omenn syndrome48
HP:0002721HP:0005387Combined immunodeficiency1IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002721HP:0005387Combined immunodeficiency1IL7R CL E G H35756024ORPHA:39041Omenn syndrome94
HP:0002721HP:0005387Combined immunodeficiency1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0002721HP:0005387Combined immunodeficiency1IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0002721HP:0005387Combined immunodeficiency1JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0002721HP:0005374Cellular immunodeficiency1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0002721HP:0005387Combined immunodeficiency1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0002721HP:0005387Combined immunodeficiency1LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0002721HP:0005387Combined immunodeficiency1LIG4 CL E G H39816601ORPHA:39041Omenn syndrome88
HP:0002721HP:0005387Combined immunodeficiency1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0002721HP:0005387Combined immunodeficiency1MS4A1 CL E G H9317315OMIM:613495Immunodeficiency, common variable, 51
HP:0002721HP:0005387Combined immunodeficiency1MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia5
HP:0002721HP:0005387Combined immunodeficiency1NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0002721HP:0005387Combined immunodeficiency1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002721HP:0005374Cellular immunodeficiency1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0002721HP:0005374Cellular immunodeficiency1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0002721HP:0005374Cellular immunodeficiency1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0002721HP:0005374Cellular immunodeficiency1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0002721HP:0005387Combined immunodeficiency1PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0002721HP:0005387Combined immunodeficiency1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0002721HP:0005374Cellular immunodeficiency1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0002721HP:0005387Combined immunodeficiency1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0002721HP:0005363Humoral immunodeficiency1PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040282 - Frequent52
HP:0002721HP:0005387Combined immunodeficiency1PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiency52
HP:0002721HP:0005387Combined immunodeficiency1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0002721HP:0005374Cellular immunodeficiency1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0002721HP:0005387Combined immunodeficiency1RAG1 CL E G H58969831OMIM:233650Combined cellular and humoral immune defects with granulomas.127
HP:0002721HP:0005387Combined immunodeficiency1RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiency127
HP:0002721HP:0005387Combined immunodeficiency1RAG1 CL E G H58969831ORPHA:39041Omenn syndrome127
HP:0002721HP:0005387Combined immunodeficiency1RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive127
HP:0002721HP:0005387Combined immunodeficiency1RAG2 CL E G H58979832OMIM:233650Combined cellular and humoral immune defects with granulomas.50
HP:0002721HP:0005387Combined immunodeficiency1RAG2 CL E G H58979832ORPHA:39041Omenn syndrome50
HP:0002721HP:0005387Combined immunodeficiency1RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive50
HP:0002721HP:0005374Cellular immunodeficiency1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0002721HP:0005387Combined immunodeficiency1RMRP CL E G H602310031ORPHA:39041Omenn syndrome37
HP:0002721HP:0005374Cellular immunodeficiency1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0002721HP:0005374Cellular immunodeficiency1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0002721HP:0005374Cellular immunodeficiency1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0002721HP:0005374Cellular immunodeficiency1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0002721HP:0005374Cellular immunodeficiency1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0002721HP:0005374Cellular immunodeficiency1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0002721HP:0005374Cellular immunodeficiency1TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040283 - Occasional52
HP:0002721HP:0005374Cellular immunodeficiency1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0002721HP:0005374Cellular immunodeficiency1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0002721HP:0005374Cellular immunodeficiency1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0002721HP:0005387Combined immunodeficiency1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0002721HP:0005387Combined immunodeficiency1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0002721HP:0005387Combined immunodeficiency1TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0002721HP:0005387Combined immunodeficiency1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0002721HP:0005387Combined immunodeficiency1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002721HP:0005374Cellular immunodeficiency1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0002721HP:0005374Cellular immunodeficiency1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0002721HP:0005374Cellular immunodeficiency1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0002721HP:0005374Cellular immunodeficiency1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0002721HP:0005387Combined immunodeficiency1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0002721HP:0005374Cellular immunodeficiency1ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040282 - Frequent9
HP:0002721HP:0004430Severe combined immunodeficiency2ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0002721HP:0004430Severe combined immunodeficiency2ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0002721HP:0004430Severe combined immunodeficiency2AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0002721HP:0004430Severe combined immunodeficiency2BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0002721HP:0004430Severe combined immunodeficiency2CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0002721HP:0004430Severe combined immunodeficiency2DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0002721HP:0004430Severe combined immunodeficiency2DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0002721HP:0004430Severe combined immunodeficiency2EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002721HP:0004430Severe combined immunodeficiency2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002721HP:0005352Severe T-cell immunodeficiency2FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0002721HP:0005352Severe T-cell immunodeficiency2FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0002721HP:0004430Severe combined immunodeficiency2IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0002721HP:0004430Severe combined immunodeficiency2IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002721HP:0004430Severe combined immunodeficiency2IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0002721HP:0004430Severe combined immunodeficiency2IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0002721HP:0004430Severe combined immunodeficiency2JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0002721HP:0004430Severe combined immunodeficiency2LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0002721HP:0004430Severe combined immunodeficiency2LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0002721HP:0004430Severe combined immunodeficiency2MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0002721HP:0004430Severe combined immunodeficiency2PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0002721HP:0004430Severe combined immunodeficiency2PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent11
HP:0002721HP:0004430Severe combined immunodeficiency2PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040282 - Frequent52
HP:0002721HP:0004430Severe combined immunodeficiency2PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities.42
HP:0002721HP:0004430Severe combined immunodeficiency2RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiencyHP:0040281 - Very frequent127
HP:0002721HP:0004430Severe combined immunodeficiency2RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0002721HP:0004430Severe combined immunodeficiency2RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0002721HP:0004430Severe combined immunodeficiency2RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0002721HP:0004430Severe combined immunodeficiency2RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0002721HP:0004430Severe combined immunodeficiency2RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0002721HP:0005352Severe T-cell immunodeficiency2SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0002721HP:0004430Severe combined immunodeficiency2TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent26
HP:0002721HP:0004430Severe combined immunodeficiency2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040283 - Occasional26
HP:0002721HP:0004430Severe combined immunodeficiency2XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9


Genes (213) :ACD ACP5 ACTB ADA ADA2 AGL AICDA AK2 AKT1 ALG1 AMN ANTXR2 AP3D1 ARVCF ATM ATRX BCL10 BCL11B BCR BLNK BRAF BTK BUB1B CARD11 CARD9 CCDC47 CD19 CD247 CD28 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CD81 CDC42 CDCA7 CDH23 CHD1 CHD7 COMT CORO1A CPLX1 CR2 CREBBP CRKL CTBP1 CTC1 CTLA4 CTPS1 CUBN CUL4B CYBA CYBB DCLRE1C DKC1 DNAJC21 DNMT3B DOCK2 EFL1 EP300 EPG5 EXTL3 FCGR3A FGFRL1 FOXN1 FRAS1 GATA2 GP1BB HBB HELLS HIRA HYOU1 ICOS IFNGR1 IFNGR2 IGHM IGLL1 IKBKB IKBKG IKZF1 IL12B IL12RB1 IL21R IL2RA IL2RB IL2RG IL7R IRAK4 IRF2BP2 IRF7 IRF8 ISG15 IVNS1ABP JAK3 JMJD1C KLLN KNSTRN LAMTOR2 LAT LCK LCP2 LETM1 LIG4 LMNB2 LRBA LRRC8A LYST MAGT1 MALT1 MAN2B1 MAPK1 MBTPS2 MCM10 MEIS2 MGAT2 MMUT MS4A1 MTHFD1 MYC MYD88 NCF1 NCF2 NFE2L2 NFKB1 NFKB2 NHEJ1 NHP2 NOP10 NPM1 NR3C1 NSD2 ORAI1 OTULIN PARN PGM3 PI4KA PIK3CA PIK3CD PIK3R1 PNP POGZ POLE PRKCD PRKDC PRPS1 PTEN RAB27A RAC2 RAG1 RAG2 RBCK1 RMRP RNF168 RREB1 RTEL1 SBDS SDHB SDHC SDHD SEC23B SEC24C SH2D1A SHANK3 SIK3 SKIC2 SKIC3 SLC46A1 SMARCAL1 SP110 SPATA5 SRP54 STAT1 STIM1 STK4 TBCE TBK1 TBX1 TCF3 TERC TERT TFRC TICAM1 TINF2 TLR3 TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF4 TNFSF12 TOM1 TP53 TRAF3 TTC7A TYK2 TYMS UFD1 UNC119 UNC93B1 UNG USB1 USF3 USP48 USP8 WAS WIPF1 WRAP53 XIAP XRCC4 ZBTB24 ZNF699

Diseases (178) :ORPHA:3322 OMIM:607944 ORPHA:79107 ORPHA:39041 OMIM:102700 OMIM:615688 ORPHA:366 OMIM:605258 OMIM:267500 ORPHA:33355 ORPHA:201 ORPHA:79327 ORPHA:35858 ORPHA:2176 OMIM:617050 ORPHA:567 ORPHA:100 ORPHA:231401 ORPHA:96253 OMIM:616098 OMIM:617237 ORPHA:261330 ORPHA:33110 ORPHA:47 OMIM:257300 OMIM:615206 OMIM:212050 OMIM:618268 ORPHA:1572 OMIM:240500 OMIM:613493 OMIM:610163 ORPHA:3162 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:606843 OMIM:308230 ORPHA:487796 OMIM:616737 ORPHA:2268 ORPHA:529965 OMIM:617682 OMIM:615401 OMIM:194190 ORPHA:353281 ORPHA:353277 ORPHA:1775 OMIM:616100 OMIM:615897 ORPHA:85293 OMIM:233690 OMIM:306400 OMIM:602450 OMIM:305000 ORPHA:811 OMIM:242860 OMIM:616433 ORPHA:353284 ORPHA:1493 OMIM:242840 OMIM:617425 ORPHA:508533 OMIM:615707 ORPHA:169095 OMIM:601705 OMIM:219000 OMIM:614172 ORPHA:231249 OMIM:233600 OMIM:607594 OMIM:615978 OMIM:614889 OMIM:615592 OMIM:300291 OMIM:300636 OMIM:616873 OMIM:614890 OMIM:614891 ORPHA:319552 OMIM:615207 OMIM:606367 OMIM:618495 OMIM:312863 OMIM:300400 OMIM:608971 OMIM:607676 ORPHA:70592 OMIM:617765 OMIM:616345 OMIM:614893 OMIM:226990 OMIM:616126 OMIM:618969 OMIM:600802 ORPHA:221139 OMIM:610798 ORPHA:90023 OMIM:617514 OMIM:615758 OMIM:619374 ORPHA:99812 ORPHA:79087 OMIM:614700 ORPHA:352723 ORPHA:167 OMIM:300853 OMIM:615468 ORPHA:309288 ORPHA:309282 ORPHA:2273 OMIM:619313 ORPHA:261190 ORPHA:79329 ORPHA:79312 OMIM:613495 OMIM:617780 OMIM:113970 ORPHA:183713 OMIM:233700 OMIM:233710 OMIM:617744 OMIM:616576 OMIM:615577 ORPHA:169079 OMIM:612782 OMIM:619986 OMIM:615816 ORPHA:443811 ORPHA:436252 OMIM:619708 OMIM:615513 OMIM:616005 ORPHA:760 OMIM:616364 OMIM:615139 OMIM:618336 OMIM:615966 OMIM:301835 ORPHA:79477 ORPHA:183707 OMIM:233650 ORPHA:231154 OMIM:601457 OMIM:615895 OMIM:250250 OMIM:611943 ORPHA:420741 OMIM:615190 OMIM:308240 ORPHA:48652 OMIM:618162 ORPHA:84064 OMIM:614602 ORPHA:90045 ORPHA:1830 OMIM:235550 OMIM:616577 ORPHA:457351 ORPHA:391487 OMIM:614892 OMIM:614162 OMIM:612783 OMIM:614868 ORPHA:2323 ORPHA:1930 OMIM:616740 OMIM:613494 OMIM:615593 OMIM:243150 OMIM:611521 OMIM:615518 OMIM:608106 ORPHA:906 OMIM:300635 OMIM:616541 OMIM:614069 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.