GeneAssociated phenotypesInheritanceClinVarHGMD
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR25226
CARD14PsoriasisAD929
DDX58Singleton-Merten syndromeAD43
ELANENeutropeniaAD43217
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR1419
IL1RNOsteomyelitis, sterile multifocal, with periostitis and pustulosisAR612
IL36RNPustular psoriasis, generalizedAR626
ISG15Immunodeficiency, with basal ganglia calcificationAR33
LPIN2Majeed syndromeAR1214
MEFVFamilial Mediterranean feverAD/AR29182
MVKMevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, multiple typesAD/AR35181
NLRC4Autoinflammation with infantile enterocolitis (AIFEC), Familial cold autoinflammatory syndrome 4AD68
NLRP1Palmoplantar carcinoma, multiple self-healing, Autoinflammation with arthritis and dyskeratosisAD/AR515
NLRP12Familial cold autoinflammatory syndromeAD1212
NLRP3Neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Familial cold-induced autoinflammatory syndrome 1AD20136
NOD2Blau syndrome, Sarcoidosis, early-onsetAD/AR1270
OTULINAutoinflammation, panniculitis, and dermatosis syndrome (AIPDS)AR83
PLCG2Familial cold autoinflammatory syndrome 3 (PLAID), Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)AD713
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndromeAR635
PSENENAcne inversa, familial, 2AD717
PSMB8Nakajo-Nishimura syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Autoinflammation, lipodystrophy, and dermatosis syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndromeAR59
PSTPIP1Pyogenic sterile arthritis, pyoderma gangrenosum, and acneAD529
RNASEH2AAicardi-Goutières syndromeAR1321
RNASEH2BAicardi-Goutières syndromeAR1641
RNASEH2CAicardi-Goutières syndromeAR614
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR2556
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
TMEM173STING-associated vasculopathy, infantile-onsent (SAVI)AD410
TNFAIP3Autoinflammatory syndrome, familial, Behcet-likeAD823
TNFRSF1A#Periodic fever (TNF receptor-associated periodic syndrome)AD19106
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR3071
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayAR1326
GeneAssociated phenotypesInheritanceClinVarHGMD
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACTB*Baraitser-Winter syndromeAD5560
AK2Reticular dysgenesisAR1417
ANKRD26ThrombocytopeniaAD621
AP3B1Hermansky-Pudlak syndromeAR1434
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
BLMBloom syndromeAR152119
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
CEBPAAcute myeloid leukemia, familialAD1513
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
DDX41Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility toAD921
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
DTNBP1Hermansky-Pudlak syndromeAR23
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
EPCAMDiarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposisAD/AR3880
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC6L2Bone marrow failure syndrome 2AR49
ETV6Thrombocytopenia 5AD1038
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IFNGR2ImmunodeficiencyAR418
IKZF1Immunodeficiency, common variable, 13AD1035
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MKL1Primary immunodeficiencyAR4
MLH1Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR8731191
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MSH2Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndromeAD/AR9331249
MSH6Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR672586
MYO5AGriscelli syndromeAR79
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PAX5Pre-B cell acute lymphoblastic leukemiaAD7
PGM3Immunodeficiency 23AR1415
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PTPN11Noonan syndrome, MetachondromatosisAD135140
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RIT1Noonan syndromeAD2326
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SH2D1ALymphoproliferative syndromeXL21129
SLC37A4Glycogen storage diseaseAR49113
SLX4Fanconi anemiaAR1872
SMARCD2Specific granule defiency 2AR31
SOS1Noonan syndromeAD4471
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
THPOThrombocythemia 1AD510
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
UBE2TFanconi anemia, complementation group TAR27
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
USB1Poikiloderma with neutropeniaAR2422
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
XIAP*Lymphoproliferative syndromeXL1496
XRCC2Hereditary breast cancerAD/AR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
C17ORF62Chronic granulomatous diseaseAR1
CYBAChronic granulomatous diseaseAR1371
CYBBChronic granulomatous disease, ImmunodeficiencyXL69780
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
NCF1#*Chronic granulomatous diseaseAR1844
NCF2Chronic granulomatous diseaseAR1972
NCF4Granulomatous diseaseAR45
NOD2Blau syndrome, Sarcoidosis, early-onsetAD/AR1270
GeneAssociated phenotypesInheritanceClinVarHGMD
ADIPOQComplement systemAD/AR28
ADIPOR1*Complement systemAD/AR4
ADIPOR2Complement systemAD/AR11
ARMC4#*Ciliary dyskinesiaAR1817
C11ORF70Primary ciliary dyskinesiaAR5
C1QAC1q deficiencyAR27
C1QBC1q deficiencyAR48
C1QBPPrimary immunodeficiencyAD/AR67
C1QCC1q deficiencyAR410
C1SComplement component C1s deficiencyAD/AR410
C2*Complement component 2 deficiencyAR49
C3Hemolytic uremic syndrome, atypical, Complement component 3 deficiency, Macular degeneration, age-relatedAD/AR687
C3AR1Complement systemAD/AR14
C4BPAComplement systemAD/AR4
C4BPBComplement systemAD/AR1
C5#Eculizumab, poor response to, Complement component 5 deficiencyAD/AR618
C5AR1Complement systemAD/AR
C5AR2Complement systemAD/AR2
C6Complement component 6 deficiencyAR812
C7Complement component 7 deficiencyAR1431
C8AComplement component 8 deficiencyAR28
C8BComplement component 8 deficiencyAR78
C8GImmunodeficiencyAD/AR
C9Complement component 9 deficiencyAR79
CCDC103Ciliary dyskinesiaAR45
CCDC114Ciliary dyskinesiaAR98
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CCDC65Ciliary dyskinesiaAR22
CCNOCiliary dyskinesiaAR1110
CD46*Hemolytic uremic syndrome, atypicalAD/AR581
CD55#Blood group, Cromer systemBG77
CD59CD59 deficiencyAR48
CD93Complement systemAD/AR
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypicalAD/AR226
CFDComplement factor D deficiencyAR23
CFH*Hemolytic uremic syndrome, atypical, Complement factor H deficiency, Basal laminar drusenAD/AR18305
CFIHemolytic uremic syndrome, atypical, Complement factor I deficiencyAD/AR10143
CFPProperdin deficiencyXL517
CLUComplement systemAD/AR17
COLEC113MC syndromeAR613
CR2Common variable immunodeficiencyAR216
CRPComplement systemAD/AR
DGKENephrotic syndromeAR1738
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAAF3Primary ciliary dyskinesiaAD/AR115
DNAAF5Ciliary dyskinesiaAR95
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAH9Primary ciliary dyskinesiaAR6
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
DRC1Primary ciliary dyskinesiaAD/AR53
DYX1C1Ciliary dyskinesiaAR1512
FCN1Complement systemAD/AR4
FCN2Complement systemAD/AR1
FCN3Immunodeficiency due to Ficolin 3 deficiencyAR1
GAS2L2Primary ciliary dyskinesiaAR3
HYDIN#*Primary ciliary dyskinesiaAD/AR525
LRRC6Ciliary dyskinesiaAR1019
MASP13MC syndromeAR1122
MASP2MASP2 deficiencyAR6
MAT2A*Complement systemAD/AR2
MCIDASPrimary ciliary dyskinesiaAR43
NME8Ciliary dyskinesiaAR16
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
PIGA*Multiple congenital anomalies-hypotonia-seizures syndromeXL2427
PTX3Complement systemAD/AR1
RSPH1Ciliary dyskinesiaAR1410
RSPH4ACiliary dyskinesiaAR1824
RSPH9Ciliary dyskinesiaAR812
SERPING1Angioedema, Complement component 4, partial deficiency ofAD/AR34563
SPAG1Primary ciliary dyskinesiaAR1811
STK36Primary ciliary dyskinesiaAR5
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
VSIG4Complement systemXL2
VTNComplement systemAD/AR
ZMYND10Ciliary dyskinesiaAR816
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
IFNGR2ImmunodeficiencyAR418
JAGN1Neutropenia, severe congenitalAR88
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LYSTChediak-Higashi syndromeAR5097
MKL1Primary immunodeficiencyAR4
PGM3Immunodeficiency 23AR1415
RAC2Neutrophil immunodeficiency syndromeAD23
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SLC37A4Glycogen storage diseaseAR49113
SMARCD2Specific granule defiency 2AR31
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
GeneAssociated phenotypesInheritanceClinVarHGMD
AK2Reticular dysgenesisAR1417
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
USB1Poikiloderma with neutropeniaAR2422
WRAP53Dyskeratosis congenitaAR76
GeneAssociated phenotypesInheritanceClinVarHGMD
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
ITKLymphoproliferative syndromeAR411
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MYO5AGriscelli syndromeAR79
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
SH2D1ALymphoproliferative syndromeXL21129
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
XIAP*Lymphoproliferative syndromeXL1496
GeneAssociated phenotypesInheritanceClinVarHGMD
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ACTB*Baraitser-Winter syndromeAD5560
ADASevere combined immunodeficiency due to adenosine deaminase deficiencyAR4993
ADAM17Inflammatory skin and bowel disease, neonatal 1AR17
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR25226
AICDAImmunodeficiency with hyper-IgMAD/AR1450
AIREAutoimmune polyendocrinopathy syndromeAD/AR73134
AK2Reticular dysgenesisAR1417
ALPIInflammatory bowel diseaseAR5
AP3B1Hermansky-Pudlak syndromeAR1434
ARHGEF1Idiopathic bronchiectasis, Immunodeficiencies with antibody defectsAR1
ARMC4#*Ciliary dyskinesiaAR1817
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATP6AP1Immunodeficiency 47XL55
BACH2BACH2-related immunodeficiency and autoimmunity (BRIDA)AD2
BCL10Immunodeficiency 37AR161
BCL11BImmunodeficiency 49AD812
BLMBloom syndromeAR152119
BLNKAgammaglobulinemia 4AR23
BTKHypogammaglobulinemia, Agammaglobulinemia and isolated hormone deficiency, AgammaglobulinemiaXL114908
C11ORF70Primary ciliary dyskinesiaAR5
C17ORF62Chronic granulomatous diseaseAR1
C1QAC1q deficiencyAR27
C1QBC1q deficiencyAR48
C1QCC1q deficiencyAR410
C1SComplement component C1s deficiencyAD/AR410
C2*Complement component 2 deficiencyAR49
C21ORF59Ciliary dyskinesiaAR54
C3Hemolytic uremic syndrome, atypical, Complement component 3 deficiency, Macular degeneration, age-relatedAD/AR687
CARD11B-cell expansion with NFKB and T-cell anergy, ImmunodeficiencyAD/AR129
CARD14PsoriasisAD929
CARD9Candidiasis, familial, 2AR825
CASP10Autoimmune lymphoproliferative syndromeAD57
CASP8Caspase 8 defiencyAR27
CCDC103Ciliary dyskinesiaAR45
CCDC114Ciliary dyskinesiaAR98
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CCDC65Ciliary dyskinesiaAR22
CCNOCiliary dyskinesiaAR1110
CD19Immunodeficiency, common variableAR89
CD247ImmunodeficiencyAR84
CD27Lymphoproliferative syndromeAR48
CD3DImmunodeficiencyAR35
CD3EImmunodeficiencyAR47
CD3GImmunodeficiencyAR53
CD40Immunodeficiency with Hyper-IgMAR510
CD40LGImmunodeficiency, with hyper-IgMXL35231
CD46*Hemolytic uremic syndrome, atypicalAD/AR581
CD55#Blood group, Cromer systemBG77
CD59CD59 deficiencyAR48
CD70Primary immunodeficiencyAR4
CD79AAgammaglobulinemia 3AR37
CD79BAgammaglobulinemia 6AR23
CD81Immunodeficiency, common variable, 6AR11
CD8ACD8 deficiencyAR11
CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3AR46
CDK9AR1
CEBPESpecific granule deficiency 1AR34
CECR1Polyarteritis nodosa, ADA2 deficiencyAR1550
CENPFCiliary dyskinesia -Lethal CiliopathyAR138
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypicalAD/AR226
CFDComplement factor D deficiencyAR23
CFH*Hemolytic uremic syndrome, atypical, Complement factor H deficiency, Basal laminar drusenAD/AR18305
CFIHemolytic uremic syndrome, atypical, Complement factor I deficiencyAD/AR10143
CFPProperdin deficiencyXL517
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CIITABare lymphocyte syndromeAR915
CLCN7OsteopetrosisAD/AR1598
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
COLEC113MC syndromeAR613
COPAAutoimmune interstitial lung, joint, and kidney diseaseAD66
CORO1A#*ImmunodeficiencyAR416
CR2Common variable immunodeficiencyAR216
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5AR26
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTLA4Autoimmune lymphoproliferative syndrome, type VAD1134
CTPS1Immunodeficiency 24AR11
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
CYBAChronic granulomatous diseaseAR1371
CYBBChronic granulomatous disease, ImmunodeficiencyXL69780
DBR1ImmunodeficiencyAR1
DCLRE1C*Omenn syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiationAR1889
DDX58Singleton-Merten syndromeAD43
DGKENephrotic syndromeAR1738
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAAF3Primary ciliary dyskinesiaAD/AR115
DNAAF5Ciliary dyskinesiaAR95
DNAH1Spermatogenic failure 18AR1532
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAH9Primary ciliary dyskinesiaAR6
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAJC21Bone marrow failure syndrome 3AR511
DNAL1Ciliary dyskinesiaAR31
DNASE2Primary immunodeficiency2
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndromeAR1447
DOCK2ImmunodeficiencyAR76
DOCK8Hyper-IgE recurrent infection syndrome, Mental retardation, autosomal dominant 2AR54168
DRC1Primary ciliary dyskinesiaAD/AR53
DYX1C1Ciliary dyskinesiaAR1512
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
EPG5Vici syndromeAR3666
ERCC6L2Bone marrow failure syndrome 2AR49
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)AR48
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
FCHO1Common variable immunodeficiencyAR
FERMT3Leukocyte adhesion deficiencyAR814
FOXN1T-cell immunodeficiency, congenital alopecia, and nail dystrophyAR66
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathyXL2893
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
GAS2L2Primary ciliary dyskinesiaAR3
GAS8Ciliary dyskinesia, primary, 33AR46
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4AR66
HYDIN#*Primary ciliary dyskinesiaAD/AR525
HYOU1Combined immunodeficiencyAR2
ICOSImmunodeficiency, common variable, 1AR34
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR1419
IFNAR2Immunodeficiency 45AR12
IFNGR1ImmunodeficiencyAD/AR1642
IFNGR2ImmunodeficiencyAR418
IGLL1*AgammaglobulinemiaAR23
IKBKBImmunodeficiency 15AR27
IKZF1Immunodeficiency, common variable, 13AD1035
IL10Graft vs. host diseaseAD15
IL10RAInflammatory bowel diseaseAR443
IL10RBInflammatory bowel diseaseAR219
IL12BImmunodeficiency 28, Immunodeficiency 29AR413
IL12RB1#ImmunodeficiencyAR1382
IL17RAImmunodeficiency 51AR817
IL17RCCandiasis, familial, 9AR34
IL1RNOsteomyelitis, sterile multifocal, with periostitis and pustulosisAR612
IL21Immunodeficiency, common variable, 11AR11
IL21RImmunodeficiency, primary, autosomal recessive, IL21R-relatedAD/AR39
IL23RPrimary immunodeficiencyAR1
IL2RAInterleukin 2 receptor, alpha, deficiencyAR66
IL2RBPrimary immunodeficiencyAR
IL2RGCombined immunodeficiencyXL54243
IL36RNPustular psoriasis, generalizedAR626
IL6ST*Primary immunodeficiencyAR
IL7RSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR2348
INVSNephronophthisisAR1634
IRAK4IRAK4 deficiency, Invasive pneumococcal disease, recurrent, isolated, 1AR1229
IRF2BP2Immunodeficiency, common variable, 14AD12
IRF8Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency), Immunodeficiency 32B (monocyte and dendritic cell deficiency)AD/AR48
ISG15Immunodeficiency, with basal ganglia calcificationAR33
ITGB2Leukocyte adhesion deficiencyAR33118
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
JAK1Primary immunodeficiencyAR46
JAK3Severe combined immunodeficiency, , T cell-negative, B cell-positive, natural killer cell-negativeAR3066
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LATImmunodeficiency 52AR218
LCKImmunodeficiencyAR23
LIG1Primary immunodeficiencyAR3
LIG4Severe combined immunodeficiency with sensitivity to ionizing radiation, LIG4 syndromeAR1836
LPIN2Majeed syndromeAR1214
LRBACommon variable immunodeficiencyAR2364
LRRC6Ciliary dyskinesiaAR1019
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MALT1ImmunodeficiencyAR35
MAP3K14Primary immunodeficiency with multifaceted aberrant lymphoid immunityAR12
MASP13MC syndromeAR1122
MCIDASPrimary ciliary dyskinesiaAR43
MEFVFamilial Mediterranean feverAD/AR29182
MKL1Primary immunodeficiencyAR4
MOGSCongenital disorder of glycosylationAR78
MRE11AAtaxia-telangiectasia-like disorder-1AR5756
MSN*Immunodeficiency 50XL22
MTHFD1Severe combined immunodeficiencyAR911
MVKMevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, multiple typesAD/AR35181
MYD88MYD88 deficiencyAR55
MYO5AGriscelli syndromeAR79
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NCF1#*Chronic granulomatous diseaseAR1844
NCF2Chronic granulomatous diseaseAR1972
NCF4Granulomatous diseaseAR45
NCSTNAcne inversa, familial 1AD730
NFKB1Common variable immunodeficiencyAD817
NFKB2Common variable immunodeficiencyAD611
NFKBIAEctodermal dysplasia, anhidrotic, with T-cell immunodeficiencyAD511
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationAR1516
NHP2Dyskeratosis congenitaAR53
NLRC4Autoinflammation with infantile enterocolitis (AIFEC), Familial cold autoinflammatory syndrome 4AD68
NLRP1Palmoplantar carcinoma, multiple self-healing, Autoinflammation with arthritis and dyskeratosisAD/AR515
NLRP12Familial cold autoinflammatory syndromeAD1212
NLRP3Neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Familial cold-induced autoinflammatory syndrome 1AD20136
NME8Ciliary dyskinesiaAR16
NOD2Blau syndrome, Sarcoidosis, early-onsetAD/AR1270
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)AR22
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
ORAI1Immunodeficiency, Myopathy, tubular aggregate, 2AD/AR913
OTULINAutoinflammation, panniculitis, and dermatosis syndrome (AIPDS)AR83
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PEPDProlidase deficiencyAR1231
PGM3Immunodeficiency 23AR1415
PIGA*Multiple congenital anomalies-hypotonia-seizures syndromeXL2427
PIH1D3Ciliary dyskinesia, primary, 36XL212
PIK3CD*ImmunodeficiencyAD612
PIK3R1Agammaglobulinemia, SHORT syndromeAD/AR3324
PLCG2Familial cold autoinflammatory syndrome 3 (PLAID), Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)AD713
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PNPPurine nucleoside phosphorylase deficiencyAR1133
POLD1Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, ImmunodeficiencyAD/AR331
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)AD/AR870
POLE2Combined immunodeficiencyAR3
POMPKeratosis linearis with ichthyosis congenita and sclerosing keratodermaAR54
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndromeAR635
PRKCDAutoimmune lymphoproliferative syndrome type IIIAR46
PRKDCImmunodeficiencyAR69
PSENENAcne inversa, familial, 2AD717
PSMB8Nakajo-Nishimura syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Autoinflammation, lipodystrophy, and dermatosis syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndromeAR59
PSTPIP1Pyogenic sterile arthritis, pyoderma gangrenosum, and acneAD529
PTPRCSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR45
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAG1Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency, Combined cellular and humoral immune defects with granulomasAR47184
RAG2Omenn syndrome, Combined cellular and humoral immune defects with granulomasAR2879
RASGRP1Primary immunodeficiencyAR13
RBCK1Polyglucosan body myopathyAR1114
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RELA*Autoimmune lymphoproliferative syndromeAD13
RFX5Bare lymphocyte syndromeAR410
RFXANKMHC class II deficiencyAR816
RFXAPBare lymphocyte syndromeAR69
RHOHT-cell immunodeficiency with epidermodysplasia verruciformisAD/AR1
RIPK1Primary immunodeficiencyAR31
RLTPRCombined immunodeficiencyAR118
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RNASEH2AAicardi-Goutières syndromeAR1321
RNASEH2BAicardi-Goutières syndromeAR1641
RNASEH2CAicardi-Goutières syndromeAR614
RNF168RIDDLE syndromeAR45
RNF31HOIP and LUBAC deficiencyAR1
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
RORCImmunodeficiency 42AR33
RPGRRetinitis pigmentosa, Cone-rod dystrophy, X-linked, 1, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3XL79218
RPSAAsplenia, isolated congenitalAD78
RSPH1Ciliary dyskinesiaAR1410
RSPH3Ciliary dyskinesia, primary, 32AR75
RSPH4ACiliary dyskinesiaAR1824
RSPH9Ciliary dyskinesiaAR812
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR2556
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SERPING1Angioedema, Complement component 4, partial deficiency ofAD/AR34563
SH2D1ALymphoproliferative syndromeXL21129
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
SLC35C1Congenital disorder of glycosylation, Leukocyte adhesion deficiencyAR67
SLC37A4Glycogen storage diseaseAR49113
SLC39A7AgammaglobulinemiaAR
SLC46A1Folate malabsorptionAR1723
SLC7A7Lysinuric protein intoleranceAR5567
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SMARCD2Specific granule defiency 2AR31
SP110Hepatic venoocclusive disease with immunodeficiencyAR88
SPAG1Primary ciliary dyskinesiaAR1811
SPINK5Netherton syndromeAR2985
SPPL2APrimary immunodeficiencyAR1
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STAT1ImmunodeficiencyAD/AR39122
STAT2ImmunodeficiencyAR36
STAT3Hyper-IgE recurrent infection syndrome, Autoimmune disease, multisystem, infantile onsetAD47152
STAT5B*Growth hormone insensitivity with immunodeficiencyAR913
STIM1Stormorken syndrome, Immunodeficiency, Myopathy, tubular aggregate 1AD/AR1324
STK36Primary ciliary dyskinesiaAR5
STK4T-cell immunodeficiency syndrome, recurrent infections, autoimmunity,AR37
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
TAP1Bare lymphocyte syndromeAR17
TAP2Bare lymphocyte syndromeAR48
TAPBPBare lymphocyte syndromeAR12
TBX1Conotruncal anomaly face syndromeAD1772
TCF3Agammaglobulinemia 8, autosomal dominantAD15
TCN2Transcobalamin II deficiencyAR935
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TFRCImmunodeficiency 46AR82
TGFB1Diaphyseal dysplasia Camurati-EngelmannAD1523
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMC6Epidermodysplasia verruciformisAR87
TMC8Epidermodysplasia verruciformisAR39
TMEM173STING-associated vasculopathy, infantile-onsent (SAVI)AD410
TNFAIP3Autoinflammatory syndrome, familial, Behcet-likeAD823
TNFRSF13BCommon variable immunodeficiency, Immunoglobulin A deficiencyAD/AR748
TNFRSF1A#Periodic fever (TNF receptor-associated periodic syndrome)AD19106
TNFRSF4ImmunodeficiencyAR11
TNFRSF9
TRAF3IP2Candidiasis, familial 8AR13
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR3071
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayAR1326
TTC37Trichohepatoenteric syndrome, Primary immunodeficiencyAR1264
TTC7AGastrointestinal defects and immunodeficiency syndromeAR2146
TYK2ImmunodeficiencyAR99
UNC119Immunodeficiency, Cone-rod dystrophy 2AD15
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
UNC93B1*Herpes simplex encephalitis, susceptibility to, 1AR2
UNGImmunodeficiency with hyper-IgM, type 5AR67
USB1Poikiloderma with neutropeniaAR2422
USP18#*Pseudo-TORCH syndrome 2AR401
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
XIAP*Lymphoproliferative syndromeXL1496
ZAP70Selective T-cell defectAR1529
ZBTB24Immunodeficiency-Centromeric Instability-Facial Anomalies 2AR717
ZMYND10Ciliary dyskinesiaAR816
ZNF341*AR5
GeneAssociated phenotypesInheritanceClinVarHGMD
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ACTB*Baraitser-Winter syndromeAD5560
ADASevere combined immunodeficiency due to adenosine deaminase deficiencyAR4993
ADAM17Inflammatory skin and bowel disease, neonatal 1AR17
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR25226
AICDAImmunodeficiency with hyper-IgMAD/AR1450
AIREAutoimmune polyendocrinopathy syndromeAD/AR73134
AK2Reticular dysgenesisAR1417
ALPIInflammatory bowel diseaseAR5
AP3B1Hermansky-Pudlak syndromeAR1434
ARHGEF1Idiopathic bronchiectasis, Immunodeficiencies with antibody defectsAR1
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATP6AP1Immunodeficiency 47XL55
BACH2BACH2-related immunodeficiency and autoimmunity (BRIDA)AD2
BCL10Immunodeficiency 37AR161
BCL11BImmunodeficiency 49AD812
BLMBloom syndromeAR152119
BLNKAgammaglobulinemia 4AR23
BTKHypogammaglobulinemia, Agammaglobulinemia and isolated hormone deficiency, AgammaglobulinemiaXL114908
C17ORF62Chronic granulomatous diseaseAR1
C1QAC1q deficiencyAR27
C1QBC1q deficiencyAR48
C1QCC1q deficiencyAR410
C1SComplement component C1s deficiencyAD/AR410
C2*Complement component 2 deficiencyAR49
C3Hemolytic uremic syndrome, atypical, Complement component 3 deficiency, Macular degeneration, age-relatedAD/AR687
CARD11B-cell expansion with NFKB and T-cell anergy, ImmunodeficiencyAD/AR129
CARD14PsoriasisAD929
CARD9Candidiasis, familial, 2AR825
CASP10Autoimmune lymphoproliferative syndromeAD57
CASP8Caspase 8 defiencyAR27
CD19Immunodeficiency, common variableAR89
CD247ImmunodeficiencyAR84
CD27Lymphoproliferative syndromeAR48
CD3DImmunodeficiencyAR35
CD3EImmunodeficiencyAR47
CD3GImmunodeficiencyAR53
CD40Immunodeficiency with Hyper-IgMAR510
CD40LGImmunodeficiency, with hyper-IgMXL35231
CD46*Hemolytic uremic syndrome, atypicalAD/AR581
CD55#Blood group, Cromer systemBG77
CD59CD59 deficiencyAR48
CD70Primary immunodeficiencyAR4
CD79AAgammaglobulinemia 3AR37
CD79BAgammaglobulinemia 6AR23
CD81Immunodeficiency, common variable, 6AR11
CD8ACD8 deficiencyAR11
CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3AR46
CDK9AR1
CEBPESpecific granule deficiency 1AR34
CECR1Polyarteritis nodosa, ADA2 deficiencyAR1550
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypicalAD/AR226
CFDComplement factor D deficiencyAR23
CFH*Hemolytic uremic syndrome, atypical, Complement factor H deficiency, Basal laminar drusenAD/AR18305
CFIHemolytic uremic syndrome, atypical, Complement factor I deficiencyAD/AR10143
CFPProperdin deficiencyXL517
CFTRCystic fibrosis, Congenital bilateral absence of the vas deferensAD/AR5181803
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CIITABare lymphocyte syndromeAR915
CLCN7OsteopetrosisAD/AR1598
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
COLEC113MC syndromeAR613
COPAAutoimmune interstitial lung, joint, and kidney diseaseAD66
CORO1A#*ImmunodeficiencyAR416
CR2Common variable immunodeficiencyAR216
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5AR26
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTLA4Autoimmune lymphoproliferative syndrome, type VAD1134
CTPS1Immunodeficiency 24AR11
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
CYBAChronic granulomatous diseaseAR1371
CYBBChronic granulomatous disease, ImmunodeficiencyXL69780
DBR1ImmunodeficiencyAR1
DCLRE1C*Omenn syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiationAR1889
DDX58Singleton-Merten syndromeAD43
DGKENephrotic syndromeAR1738
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndromeAR1447
DOCK2ImmunodeficiencyAR76
DOCK8Hyper-IgE recurrent infection syndrome, Mental retardation, autosomal dominant 2AR54168
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
EPG5Vici syndromeAR3666
ERCC6L2Bone marrow failure syndrome 2AR49
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)AR48
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
FCHO1Common variable immunodeficiencyAR
FERMT3Leukocyte adhesion deficiencyAR814
FOXN1T-cell immunodeficiency, congenital alopecia, and nail dystrophyAR66
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathyXL2893
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4AR66
HYOU1Combined immunodeficiencyAR2
ICOSImmunodeficiency, common variable, 1AR34
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR1419
IFNAR2Immunodeficiency 45AR12
IFNGR1ImmunodeficiencyAD/AR1642
IFNGR2ImmunodeficiencyAR418
IGLL1*AgammaglobulinemiaAR23
IKBKBImmunodeficiency 15AR27
IKZF1Immunodeficiency, common variable, 13AD1035
IL10Graft vs. host diseaseAD15
IL10RAInflammatory bowel diseaseAR443
IL10RBInflammatory bowel diseaseAR219
IL12BImmunodeficiency 28, Immunodeficiency 29AR413
IL12RB1#ImmunodeficiencyAR1382
IL17RAImmunodeficiency 51AR817
IL17RCCandiasis, familial, 9AR34
IL1RNOsteomyelitis, sterile multifocal, with periostitis and pustulosisAR612
IL21Immunodeficiency, common variable, 11AR11
IL21RImmunodeficiency, primary, autosomal recessive, IL21R-relatedAD/AR39
IL23RPrimary immunodeficiencyAR1
IL2RAInterleukin 2 receptor, alpha, deficiencyAR66
IL2RBPrimary immunodeficiencyAR
IL2RGCombined immunodeficiencyXL54243
IL36RNPustular psoriasis, generalizedAR626
IL6ST*Primary immunodeficiencyAR
IL7RSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR2348
IRAK4IRAK4 deficiency, Invasive pneumococcal disease, recurrent, isolated, 1AR1229
IRF2BP2Immunodeficiency, common variable, 14AD12
IRF8Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency), Immunodeficiency 32B (monocyte and dendritic cell deficiency)AD/AR48
ISG15Immunodeficiency, with basal ganglia calcificationAR33
ITGB2Leukocyte adhesion deficiencyAR33118
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
JAK1Primary immunodeficiencyAR46
JAK3Severe combined immunodeficiency, , T cell-negative, B cell-positive, natural killer cell-negativeAR3066
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LATImmunodeficiency 52AR218
LCKImmunodeficiencyAR23
LIG1Primary immunodeficiencyAR3
LIG4Severe combined immunodeficiency with sensitivity to ionizing radiation, LIG4 syndromeAR1836
LPIN2Majeed syndromeAR1214
LRBACommon variable immunodeficiencyAR2364
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MALT1ImmunodeficiencyAR35
MAP3K14Primary immunodeficiency with multifaceted aberrant lymphoid immunityAR12
MASP13MC syndromeAR1122
MEFVFamilial Mediterranean feverAD/AR29182
MKL1Primary immunodeficiencyAR4
MOGSCongenital disorder of glycosylationAR78
MRE11AAtaxia-telangiectasia-like disorder-1AR5756
MSN*Immunodeficiency 50XL22
MTHFD1Severe combined immunodeficiencyAR911
MVKMevalonic aciduria, Hyper-IgD syndrome, Porokeratosis 3, multiple typesAD/AR35181
MYD88MYD88 deficiencyAR55
MYO5AGriscelli syndromeAR79
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NCF1#*Chronic granulomatous diseaseAR1844
NCF2Chronic granulomatous diseaseAR1972
NCF4Granulomatous diseaseAR45
NCSTNAcne inversa, familial 1AD730
NFKB1Common variable immunodeficiencyAD817
NFKB2Common variable immunodeficiencyAD611
NFKBIAEctodermal dysplasia, anhidrotic, with T-cell immunodeficiencyAD511
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationAR1516
NHP2Dyskeratosis congenitaAR53
NLRC4Autoinflammation with infantile enterocolitis (AIFEC), Familial cold autoinflammatory syndrome 4AD68
NLRP1Palmoplantar carcinoma, multiple self-healing, Autoinflammation with arthritis and dyskeratosisAD/AR515
NLRP12Familial cold autoinflammatory syndromeAD1212
NLRP3Neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Familial cold-induced autoinflammatory syndrome 1AD20136
NOD2Blau syndrome, Sarcoidosis, early-onsetAD/AR1270
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)AR22
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
ORAI1Immunodeficiency, Myopathy, tubular aggregate, 2AD/AR913
OTULINAutoinflammation, panniculitis, and dermatosis syndrome (AIPDS)AR83
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PEPDProlidase deficiencyAR1231
PGM3Immunodeficiency 23AR1415
PIGA*Multiple congenital anomalies-hypotonia-seizures syndromeXL2427
PIK3CD*ImmunodeficiencyAD612
PIK3R1Agammaglobulinemia, SHORT syndromeAD/AR3324
PLCG2Familial cold autoinflammatory syndrome 3 (PLAID), Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)AD713
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PNPPurine nucleoside phosphorylase deficiencyAR1133
POLD1Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, ImmunodeficiencyAD/AR331
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)AD/AR870
POLE2Combined immunodeficiencyAR3
POMPKeratosis linearis with ichthyosis congenita and sclerosing keratodermaAR54
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndromeAR635
PRKCDAutoimmune lymphoproliferative syndrome type IIIAR46
PRKDCImmunodeficiencyAR69
PSENENAcne inversa, familial, 2AD717
PSMB8Nakajo-Nishimura syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Autoinflammation, lipodystrophy, and dermatosis syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndromeAR59
PSTPIP1Pyogenic sterile arthritis, pyoderma gangrenosum, and acneAD529
PTPRCSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR45
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAG1Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency, Combined cellular and humoral immune defects with granulomasAR47184
RAG2Omenn syndrome, Combined cellular and humoral immune defects with granulomasAR2879
RASGRP1Primary immunodeficiencyAR13
RBCK1Polyglucosan body myopathyAR1114
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RELA*Autoimmune lymphoproliferative syndromeAD13
RFX5Bare lymphocyte syndromeAR410
RFXANKMHC class II deficiencyAR816
RFXAPBare lymphocyte syndromeAR69
RHOHT-cell immunodeficiency with epidermodysplasia verruciformisAD/AR1
RIPK1Primary immunodeficiencyAR31
RLTPRCombined immunodeficiencyAR118
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RNASEH2AAicardi-Goutières syndromeAR1321
RNASEH2BAicardi-Goutières syndromeAR1641
RNASEH2CAicardi-Goutières syndromeAR614
RNF168RIDDLE syndromeAR45
RNF31HOIP and LUBAC deficiencyAR1
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
RORCImmunodeficiency 42AR33
RPSAAsplenia, isolated congenitalAD78
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR2556
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SERPING1Angioedema, Complement component 4, partial deficiency ofAD/AR34563
SH2D1ALymphoproliferative syndromeXL21129
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
SLC35C1Congenital disorder of glycosylation, Leukocyte adhesion deficiencyAR67
SLC37A4Glycogen storage diseaseAR49113
SLC39A7AgammaglobulinemiaAR
SLC46A1Folate malabsorptionAR1723
SLC7A7Lysinuric protein intoleranceAR5567
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SMARCD2Specific granule defiency 2AR31
SP110Hepatic venoocclusive disease with immunodeficiencyAR88
SPINK5Netherton syndromeAR2985
SPPL2APrimary immunodeficiencyAR1
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STAT1ImmunodeficiencyAD/AR39122
STAT2ImmunodeficiencyAR36
STAT3Hyper-IgE recurrent infection syndrome, Autoimmune disease, multisystem, infantile onsetAD47152
STAT5B*Growth hormone insensitivity with immunodeficiencyAR913
STIM1Stormorken syndrome, Immunodeficiency, Myopathy, tubular aggregate 1AD/AR1324
STK4T-cell immunodeficiency syndrome, recurrent infections, autoimmunity,AR37
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
TAP1Bare lymphocyte syndromeAR17
TAP2Bare lymphocyte syndromeAR48
TAPBPBare lymphocyte syndromeAR12
TBX1Conotruncal anomaly face syndromeAD1772
TCF3Agammaglobulinemia 8, autosomal dominantAD15
TCN2Transcobalamin II deficiencyAR935
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TFRCImmunodeficiency 46AR82
TGFB1Diaphyseal dysplasia Camurati-EngelmannAD1523
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMC6Epidermodysplasia verruciformisAR87
TMC8Epidermodysplasia verruciformisAR39
TMEM173STING-associated vasculopathy, infantile-onsent (SAVI)AD410
TNFAIP3Autoinflammatory syndrome, familial, Behcet-likeAD823
TNFRSF13BCommon variable immunodeficiency, Immunoglobulin A deficiencyAD/AR748
TNFRSF1A#Periodic fever (TNF receptor-associated periodic syndrome)AD19106
TNFRSF4ImmunodeficiencyAR11
TNFRSF9
TRAF3IP2Candidiasis, familial 8AR13
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR3071
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayAR1326
TTC37Trichohepatoenteric syndrome, Primary immunodeficiencyAR1264
TTC7AGastrointestinal defects and immunodeficiency syndromeAR2146
TYK2ImmunodeficiencyAR99
UNC119Immunodeficiency, Cone-rod dystrophy 2AD15
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
UNC93B1*Herpes simplex encephalitis, susceptibility to, 1AR2
UNGImmunodeficiency with hyper-IgM, type 5AR67
USB1Poikiloderma with neutropeniaAR2422
USP18#*Pseudo-TORCH syndrome 2AR401
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
XIAP*Lymphoproliferative syndromeXL1496
ZAP70Selective T-cell defectAR1529
ZBTB24Immunodeficiency-Centromeric Instability-Facial Anomalies 2AR717
ZNF341*AR5
GeneAssociated phenotypesInheritanceClinVarHGMD
ADASevere combined immunodeficiency due to adenosine deaminase deficiencyAR4993
AK2Reticular dysgenesisAR1417
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
BCL11BImmunodeficiency 49AD812
BLMBloom syndromeAR152119
CARD11B-cell expansion with NFKB and T-cell anergy, ImmunodeficiencyAD/AR129
CD247ImmunodeficiencyAR84
CD27Lymphoproliferative syndromeAR48
CD3DImmunodeficiencyAR35
CD3EImmunodeficiencyAR47
CD3GImmunodeficiencyAR53
CD40Immunodeficiency with Hyper-IgMAR510
CD40LGImmunodeficiency, with hyper-IgMXL35231
CD8ACD8 deficiencyAR11
CIITABare lymphocyte syndromeAR915
CORO1A#*ImmunodeficiencyAR416
DCLRE1C*Omenn syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiationAR1889
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndromeAR1447
DOCK8Hyper-IgE recurrent infection syndrome, Mental retardation, autosomal dominant 2AR54168
EPG5Vici syndromeAR3666
FOXN1T-cell immunodeficiency, congenital alopecia, and nail dystrophyAR66
IFNGR1ImmunodeficiencyAD/AR1642
IKBKBImmunodeficiency 15AR27
IL12RB1#ImmunodeficiencyAR1382
IL2RAInterleukin 2 receptor, alpha, deficiencyAR66
IL2RGCombined immunodeficiencyXL54243
IL7RSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR2348
IRF8Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency), Immunodeficiency 32B (monocyte and dendritic cell deficiency)AD/AR48
ITGB2Leukocyte adhesion deficiencyAR33118
ITKLymphoproliferative syndromeAR411
JAK3Severe combined immunodeficiency, , T cell-negative, B cell-positive, natural killer cell-negativeAR3066
LATImmunodeficiency 52AR218
LCKImmunodeficiencyAR23
LIG4Severe combined immunodeficiency with sensitivity to ionizing radiation, LIG4 syndromeAR1836
LRBACommon variable immunodeficiencyAR2364
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MALT1ImmunodeficiencyAR35
MAP3K14Primary immunodeficiency with multifaceted aberrant lymphoid immunityAR12
MSN*Immunodeficiency 50XL22
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationAR1516
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)AR22
ORAI1Immunodeficiency, Myopathy, tubular aggregate, 2AD/AR913
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PGM3Immunodeficiency 23AR1415
PIK3CD*ImmunodeficiencyAD612
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PNPPurine nucleoside phosphorylase deficiencyAR1133
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)AD/AR870
POLE2Combined immunodeficiencyAR3
PRKDCImmunodeficiencyAR69
PTPRCSevere combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positiveAR45
RAC2Neutrophil immunodeficiency syndromeAD23
RAG1Omenn syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency, Combined cellular and humoral immune defects with granulomasAR47184
RAG2Omenn syndrome, Combined cellular and humoral immune defects with granulomasAR2879
RFX5Bare lymphocyte syndromeAR410
RFXANKMHC class II deficiencyAR816
RFXAPBare lymphocyte syndromeAR69
RHOHT-cell immunodeficiency with epidermodysplasia verruciformisAD/AR1
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
SH2D1ALymphoproliferative syndromeXL21129
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SP110Hepatic venoocclusive disease with immunodeficiencyAR88
SPINK5Netherton syndromeAR2985
STAT1ImmunodeficiencyAD/AR39122
STAT2ImmunodeficiencyAR36
STAT3Hyper-IgE recurrent infection syndrome, Autoimmune disease, multisystem, infantile onsetAD47152
STAT5B*Growth hormone insensitivity with immunodeficiencyAR913
STIM1Stormorken syndrome, Immunodeficiency, Myopathy, tubular aggregate 1AD/AR1324
STK4T-cell immunodeficiency syndrome, recurrent infections, autoimmunity,AR37
TAP1Bare lymphocyte syndromeAR17
TAP2Bare lymphocyte syndromeAR48
TAPBPBare lymphocyte syndromeAR12
TBX1Conotruncal anomaly face syndromeAD1772
TFRCImmunodeficiency 46AR82
TNFRSF4ImmunodeficiencyAR11
TYK2ImmunodeficiencyAR99
UNC119Immunodeficiency, Cone-rod dystrophy 2AD15
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
ZAP70Selective T-cell defectAR1529