Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Recurrent skin infections (HP:0001581)help
Term ID: 1581
Name: Recurrent skin infections
Synonym: Cutaneous infections; Recurrent skin infections; Skin infections, recurrent
Definition: Infections of the skin that happen multiple times.
Comments:
Reference: HP:0001581
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent bacterial skin infections (HP:0005406) help
................... HP:0000999 Pyoderma
................... HP:0011132 Chronic furunculosis
................... HP:0100838 Recurrent cutaneous abscess formation
........expandRecurrent cutaneous fungal infections (HP:0011370) help
................... HP:0002728 Chronic mucocutaneous candidiasis
........expandRecurrent viral skin infections (HP:0011371) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandEczema (HP:0000964) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandErythroderma (HP:0001019) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandSkin rash (HP:0000988) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) 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:0001581HP:0001581Recurrent skin infections0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001581HP:0001581Recurrent skin infections0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0001581HP:0001581Recurrent skin infections0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001581HP:0001581Recurrent skin infections0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 192
HP:0001581HP:0001581Recurrent skin infections0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001581HP:0001581Recurrent skin infections0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040283 - Occasional169
HP:0001581HP:0001581Recurrent skin infections0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0001581HP:0001581Recurrent skin infections0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 935
HP:0001581HP:0001581Recurrent skin infections0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040283 - Occasional276
HP:0001581HP:0001581Recurrent skin infections0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001581HP:0001581Recurrent skin infections0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0001581HP:0001581Recurrent skin infections0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0001581HP:0001581Recurrent skin infections0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0001581HP:0001581Recurrent skin infections0CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0001581HP:0001581Recurrent skin infections0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001581HP:0001581Recurrent skin infections0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001581HP:0001581Recurrent skin infections0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001581HP:0001581Recurrent skin infections0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001581HP:0001581Recurrent skin infections0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0001581HP:0001581Recurrent skin infections0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001581HP:0001581Recurrent skin infections0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0001581HP:0001581Recurrent skin infections0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0001581HP:0001581Recurrent skin infections0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040283 - Occasional636
HP:0001581HP:0001581Recurrent skin infections0CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0001581HP:0001581Recurrent skin infections0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001581HP:0001581Recurrent skin infections0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0001581HP:0001581Recurrent skin infections0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0001581HP:0001581Recurrent skin infections0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II118
HP:0001581HP:0001581Recurrent skin infections0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0001581HP:0001581Recurrent skin infections0CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0001581HP:0001581Recurrent skin infections0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0001581HP:0001581Recurrent skin infections0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0001581HP:0001581Recurrent skin infections0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0001581HP:0001581Recurrent skin infections0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0001581HP:0001581Recurrent skin infections0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0001581HP:0001581Recurrent skin infections0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0001581HP:0001581Recurrent skin infections0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0001581HP:0001581Recurrent skin infections0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0001581HP:0001581Recurrent skin infections0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001581HP:0001581Recurrent skin infections0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0001581HP:0001581Recurrent skin infections0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0001581HP:0001581Recurrent skin infections0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0001581HP:0001581Recurrent skin infections0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0001581HP:0001581Recurrent skin infections0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0001581HP:0001581Recurrent skin infections0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040282 - Frequent79
HP:0001581HP:0001581Recurrent skin infections0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0001581HP:0001581Recurrent skin infections0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0001581HP:0001581Recurrent skin infections0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0001581HP:0001581Recurrent skin infections0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001581HP:0001581Recurrent skin infections0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040283 - Occasional20
HP:0001581HP:0001581Recurrent skin infections0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0001581HP:0001581Recurrent skin infections0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040283 - Occasional32
HP:0001581HP:0001581Recurrent skin infections0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0001581HP:0001581Recurrent skin infections0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0001581HP:0001581Recurrent skin infections0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0001581HP:0001581Recurrent skin infections0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0001581HP:0001581Recurrent skin infections0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001581HP:0001581Recurrent skin infections0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001581HP:0001581Recurrent skin infections0GJC2 CL E G H5716517494OMIM:613480Lymphedema, hereditary, IC.37
HP:0001581HP:0001581Recurrent skin infections0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0001581HP:0001581Recurrent skin infections0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0001581HP:0001581Recurrent skin infections0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0001581HP:0001581Recurrent skin infections0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0001581HP:0001581Recurrent skin infections0IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0001581HP:0001581Recurrent skin infections0IL17F CL E G H11274416404OMIM:613956CANDIDIASIS, FAMILIAL, 6; CANDF614
HP:0001581HP:0001581Recurrent skin infections0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0001581Recurrent skin infections0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 94
HP:0001581HP:0001581Recurrent skin infections0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001581HP:0001581Recurrent skin infections0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001581HP:0001581Recurrent skin infections0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0001581HP:0001581Recurrent skin infections0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0001581HP:0001581Recurrent skin infections0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001581HP:0001581Recurrent skin infections0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0001581HP:0001581Recurrent skin infections0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0001581HP:0001581Recurrent skin infections0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent79
HP:0001581HP:0001581Recurrent skin infections0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0001581HP:0001581Recurrent skin infections0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040282 - Frequent124
HP:0001581HP:0001581Recurrent skin infections0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001581HP:0001581Recurrent skin infections0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0001581HP:0001581Recurrent skin infections0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0001581HP:0001581Recurrent skin infections0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0001581HP:0001581Recurrent skin infections0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0001581HP:0001581Recurrent skin infections0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001581HP:0001581Recurrent skin infections0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001581HP:0001581Recurrent skin infections0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001581HP:0001581Recurrent skin infections0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001581HP:0001581Recurrent skin infections0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0001581HP:0001581Recurrent skin infections0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0001581HP:0001581Recurrent skin infections0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001581HP:0001581Recurrent skin infections0MBL2 CL E G H41536922OMIM:614372Mannose-Binding lectin deficiency54
HP:0001581HP:0001581Recurrent skin infections0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0001581HP:0001581Recurrent skin infections0MRTFA CL E G H5759114334OMIM:618847IMMUNODEFICIENCY 66; IMD66
HP:0001581HP:0001581Recurrent skin infections0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001581HP:0001581Recurrent skin infections0MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiency9
HP:0001581HP:0001581Recurrent skin infections0MYD88 CL E G H46157562OMIM:612260MYD88 DEFICIENCY; MYD88D9
HP:0001581HP:0001581Recurrent skin infections0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I13
HP:0001581HP:0001581Recurrent skin infections0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II67
HP:0001581HP:0001581Recurrent skin infections0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0001581HP:0001581Recurrent skin infections0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0001581HP:0001581Recurrent skin infections0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040283 - Occasional79
HP:0001581HP:0001581Recurrent skin infections0OTULIN CL E G H9026825118OMIM:6199863
HP:0001581HP:0001581Recurrent skin infections0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001581HP:0001581Recurrent skin infections0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040281 - Very frequent15
HP:0001581HP:0001581Recurrent skin infections0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0001581HP:0001581Recurrent skin infections0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0001581HP:0001581Recurrent skin infections0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0001581HP:0001581Recurrent skin infections0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0001581HP:0001581Recurrent skin infections0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0001581HP:0001581Recurrent skin infections0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0001581HP:0001581Recurrent skin infections0PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0001581HP:0001581Recurrent skin infections0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease2
HP:0001581HP:0001581Recurrent skin infections0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II38
HP:0001581HP:0001581Recurrent skin infections0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class II38
HP:0001581HP:0001581Recurrent skin infections0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II26
HP:0001581HP:0001581Recurrent skin infections0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class II26
HP:0001581HP:0001581Recurrent skin infections0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II34
HP:0001581HP:0001581Recurrent skin infections0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class II34
HP:0001581HP:0001581Recurrent skin infections0SASH3 CL E G H5444015975OMIM:3010821
HP:0001581HP:0001581Recurrent skin infections0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0001581HP:0001581Recurrent skin infections0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0001581HP:0001581Recurrent skin infections0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0001581HP:0001581Recurrent skin infections0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0001581HP:0001581Recurrent skin infections0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0001581HP:0001581Recurrent skin infections0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001581HP:0001581Recurrent skin infections0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0001581HP:0001581Recurrent skin infections0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0001581HP:0001581Recurrent skin infections0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0001581HP:0001581Recurrent skin infections0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0001581HP:0001581Recurrent skin infections0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001581HP:0001581Recurrent skin infections0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001581HP:0001581Recurrent skin infections0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent10
HP:0001581HP:0001581Recurrent skin infections0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent4
HP:0001581HP:0001581Recurrent skin infections0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001581HP:0001581Recurrent skin infections0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040283 - Occasional911
HP:0001581HP:0001581Recurrent skin infections0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001581HP:0001581Recurrent skin infections0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0001581HP:0001581Recurrent skin infections0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0001581HP:0001581Recurrent skin infections0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040283 - Occasional1
HP:0001581HP:0001581Recurrent skin infections0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040283 - Occasional7
HP:0001581HP:0001581Recurrent skin infections0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001581HP:0001581Recurrent skin infections0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2.81
HP:0001581HP:0001581Recurrent skin infections0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0001581HP:0001581Recurrent skin infections0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0001581HP:0011371Recurrent viral skin infections1 CL E G H
HP:0001581HP:0011370Recurrent cutaneous fungal infections1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001581HP:0005406Recurrent bacterial skin infections1ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0001581HP:0011370Recurrent cutaneous fungal infections1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001581HP:0011370Recurrent cutaneous fungal infections1AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 192
HP:0001581HP:0011370Recurrent cutaneous fungal infections1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001581HP:0011370Recurrent cutaneous fungal infections1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001581HP:0011370Recurrent cutaneous fungal infections1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001581HP:0005406Recurrent bacterial skin infections1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0001581HP:0005406Recurrent bacterial skin infections1BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0001581HP:0005406Recurrent bacterial skin infections1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0001581HP:0005406Recurrent bacterial skin infections1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II118
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0001581HP:0011370Recurrent cutaneous fungal infections1CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0001581HP:0005406Recurrent bacterial skin infections1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0001581HP:0005406Recurrent bacterial skin infections1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0001581HP:0005406Recurrent bacterial skin infections1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0001581HP:0005406Recurrent bacterial skin infections1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0001581HP:0011370Recurrent cutaneous fungal infections1DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0001581HP:0011370Recurrent cutaneous fungal infections1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001581HP:0005406Recurrent bacterial skin infections1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0001581HP:0005406Recurrent bacterial skin infections1EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0001581HP:0011370Recurrent cutaneous fungal infections1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0001581HP:0005406Recurrent bacterial skin infections1EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0001581HP:0005406Recurrent bacterial skin infections1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0001581HP:0005406Recurrent bacterial skin infections1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0001581HP:0011370Recurrent cutaneous fungal infections1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001581HP:0005406Recurrent bacterial skin infections1GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0001581HP:0005406Recurrent bacterial skin infections1GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0001581HP:0011370Recurrent cutaneous fungal infections1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0001581HP:0005406Recurrent bacterial skin infections1IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL17F CL E G H11274416404OMIM:613956CANDIDIASIS, FAMILIAL, 6; CANDF614
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0005406Recurrent bacterial skin infections1IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 94
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001581HP:0005406Recurrent bacterial skin infections1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001581HP:0011370Recurrent cutaneous fungal infections1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0001581HP:0011370Recurrent cutaneous fungal infections1ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0001581HP:0011370Recurrent cutaneous fungal infections1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001581HP:0011370Recurrent cutaneous fungal infections1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0001581HP:0005406Recurrent bacterial skin infections1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0001581HP:0005406Recurrent bacterial skin infections1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0001581HP:0005406Recurrent bacterial skin infections1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0001581HP:0005406Recurrent bacterial skin infections1LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001581HP:0005406Recurrent bacterial skin infections1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0001581HP:0005406Recurrent bacterial skin infections1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001581HP:0011370Recurrent cutaneous fungal infections1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001581HP:0005406Recurrent bacterial skin infections1MYD88 CL E G H46157562ORPHA:183713Bacterial susceptibility due to TLR signaling pathway deficiencyHP:0040282 - Frequent9
HP:0001581HP:0005406Recurrent bacterial skin infections1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0001581HP:0005406Recurrent bacterial skin infections1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0001581HP:0011370Recurrent cutaneous fungal infections1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001581HP:0005406Recurrent bacterial skin infections1OTULIN CL E G H9026825118OMIM:6199863
HP:0001581HP:0011370Recurrent cutaneous fungal infections1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001581HP:0011370Recurrent cutaneous fungal infections1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0001581HP:0005406Recurrent bacterial skin infections1PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0001581HP:0005406Recurrent bacterial skin infections1PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease2
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II38
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class II38
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II26
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class II26
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II34
HP:0001581HP:0011370Recurrent cutaneous fungal infections1RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class II34
HP:0001581HP:0011370Recurrent cutaneous fungal infections1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0001581HP:0011370Recurrent cutaneous fungal infections1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0001581HP:0011370Recurrent cutaneous fungal infections1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0001581HP:0011370Recurrent cutaneous fungal infections1STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001581HP:0011370Recurrent cutaneous fungal infections1STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0001581HP:0011370Recurrent cutaneous fungal infections1TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001581HP:0011370Recurrent cutaneous fungal infections1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001581HP:0011370Recurrent cutaneous fungal infections1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001581HP:0011370Recurrent cutaneous fungal infections1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001581HP:0005406Recurrent bacterial skin infections1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001581HP:0005406Recurrent bacterial skin infections1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040282 - Frequent31
HP:0001581HP:0005406Recurrent bacterial skin infections1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41
HP:0001581HP:0011370Recurrent cutaneous fungal infections1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001581HP:0011370Recurrent cutaneous fungal infections1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001581HP:0011370Recurrent cutaneous fungal infections1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001581HP:0011370Recurrent cutaneous fungal infections1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0001581HP:0005406Recurrent bacterial skin infections1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0001581HP:0011370Recurrent cutaneous fungal infections1ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive1
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001581HP:0000999Pyoderma2BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0001581HP:0000999Pyoderma2BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia.109
HP:0001581HP:0100838Recurrent cutaneous abscess formation2BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0001581HP:0100838Recurrent cutaneous abscess formation2CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent118
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0001581HP:0011132Chronic furunculosis2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0001581HP:0100838Recurrent cutaneous abscess formation2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001581HP:0100838Recurrent cutaneous abscess formation2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001581HP:0100838Recurrent cutaneous abscess formation2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0001581HP:0000999Pyoderma2IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL17F CL E G H11274416404OMIM:613956CANDIDIASIS, FAMILIAL, 6; CANDF614
HP:0001581HP:0011132Chronic furunculosis2IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 94
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0001581HP:0000999Pyoderma2LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare116
HP:0001581HP:0000999Pyoderma2LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare167
HP:0001581HP:0000999Pyoderma2LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare135
HP:0001581HP:0100838Recurrent cutaneous abscess formation2LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001581HP:0011132Chronic furunculosis2OTULIN CL E G H9026825118OMIM:6199863
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0001581HP:0100838Recurrent cutaneous abscess formation2PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0001581HP:0011132Chronic furunculosis2PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3.241
HP:0001581HP:0011132Chronic furunculosis2PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0001581HP:0100838Recurrent cutaneous abscess formation2PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent38
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent26
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent34
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040281 - Very frequent89
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C.89
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040281 - Very frequent
HP:0001581HP:0100838Recurrent cutaneous abscess formation2UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0001581HP:0002728Chronic mucocutaneous candidiasis2ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0001581HP:0005411Chronic intestinal candidiasis3 CL E G H
HP:0001581HP:0009098Chronic oral candidiasis3AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0001581HP:0009098Chronic oral candidiasis3AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001581HP:0009098Chronic oral candidiasis3CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0001581HP:0009098Chronic oral candidiasis3CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0001581HP:0009098Chronic oral candidiasis3CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0001581HP:0009098Chronic oral candidiasis3CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0001581HP:0009098Chronic oral candidiasis3CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0001581HP:0009098Chronic oral candidiasis3CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001581HP:0012204Recurrent vulvovaginal candidiasis3CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0001581HP:0009098Chronic oral candidiasis3DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0001581HP:0009098Chronic oral candidiasis3DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001581HP:0009098Chronic oral candidiasis3IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0001581HP:0009098Chronic oral candidiasis3IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001581HP:0009098Chronic oral candidiasis3IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001581HP:0009098Chronic oral candidiasis3IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001581HP:0009098Chronic oral candidiasis3JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040282 - Frequent140
HP:0001581HP:0009098Chronic oral candidiasis3KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0001581HP:0009098Chronic oral candidiasis3MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001581HP:0009098Chronic oral candidiasis3PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0001581HP:0009098Chronic oral candidiasis3STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001581HP:0012204Recurrent vulvovaginal candidiasis3STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001581HP:0009098Chronic oral candidiasis3TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0001581HP:0009098Chronic oral candidiasis3TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001581HP:0009098Chronic oral candidiasis3WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001581HP:0009098Chronic oral candidiasis3ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040282 - Frequent46


Genes (126) :ADA ADAM17 AIRE AP3B1 ATRX BLNK BLOC1S6 BRAF BTD BTK CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CD79A CD79B CDH23 CFI CHST14 CIB1 CIITA CLEC7A CLPB COL7A1 CTSC CYBA CYBB DCLRE1C DOCK2 DOCK8 DSE DSG1 EGFR ELANE EPG5 EPHB4 FERMT1 FERMT3 FOXC2 FOXP1 FOXP3 GATA1 GFI1 GINS1 GJB2 GJB6 GJC2 HYOU1 IGHM IGLL1 IKBKB IL10RA IL17F IL17RA IL17RC IL2RA IL2RG IL6R IL6ST IL7 IL7R ITGA6 ITGB2 ITGB4 JAK3 KNSTRN KRT1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LCP2 LRRC8A LYST MBL2 MMP1 MRTFA MVK MYD88 NCF1 NCF2 NFE2L2 NFKB1 NR3C1 OTULIN PGM3 PIK3CD PIK3CG PIK3R1 PKP1 POLR3A PRDM12 PSEN1 PSENEN RFX5 RFXANK RFXAP SASH3 SHANK3 SP110 SREBF1 SRP54 STAT1 STAT3 SYK TCF3 TCIRG1 TFRC TLR8 TMC6 TMC8 TOM1 TP53 UBE2A UROD UROS USP48 USP8 WDR1 XIAP ZAP70 ZNF341

Diseases (104) :OMIM:102700 ORPHA:294023 OMIM:240300 ORPHA:3453 OMIM:608233 ORPHA:96253 ORPHA:33110 OMIM:614171 OMIM:253260 OMIM:300755 OMIM:307200 ORPHA:47 OMIM:212050 OMIM:618131 ORPHA:169160 OMIM:615607 OMIM:308230 OMIM:610984 OMIM:601776 ORPHA:2953 ORPHA:302 OMIM:209920 ORPHA:572 OMIM:613108 ORPHA:486 ORPHA:89842 ORPHA:79408 OMIM:245010 ORPHA:678 OMIM:233690 OMIM:306400 ORPHA:275 OMIM:616433 ORPHA:217390 OMIM:615508 ORPHA:2686 OMIM:242840 ORPHA:90186 ORPHA:2908 OMIM:612840 ORPHA:33001 ORPHA:391372 ORPHA:37042 ORPHA:79277 OMIM:617827 OMIM:148210 ORPHA:477 OMIM:613480 OMIM:233600 OMIM:618204 OMIM:613148 OMIM:613956 OMIM:613953 OMIM:616445 OMIM:606367 OMIM:300400 ORPHA:276 OMIM:618944 OMIM:619752 OMIM:608971 ORPHA:79403 OMIM:116920 ORPHA:35078 ORPHA:221139 ORPHA:79503 ORPHA:79396 ORPHA:79404 OMIM:619374 ORPHA:167 OMIM:214500 OMIM:614372 OMIM:618847 OMIM:260920 ORPHA:183713 OMIM:612260 OMIM:233700 OMIM:233710 OMIM:617744 OMIM:616576 OMIM:619986 OMIM:615816 ORPHA:443811 OMIM:619802 ORPHA:158668 ORPHA:3455 OMIM:616488 OMIM:613737 OMIM:613736 OMIM:301082 ORPHA:48652 ORPHA:79124 OMIM:158310 ORPHA:391487 OMIM:614162 OMIM:147060 OMIM:619381 OMIM:616740 OMIM:301078 ORPHA:163956 ORPHA:95159 OMIM:150550 OMIM:300635 ORPHA:911 OMIM:618282
 

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