| Immunodeficiency Mutation Databases: (131 databases available)
 
 | 
| ADAbase | Adenosine deaminase deficiency (ADA) | Mauno Vihinen 	 and Michael Hershfield | FF10 | 
| AICDAbase | Non-X-linked hyper-IgM syndrome | Mauno Vihinen 	 and Anne Durandy | FF17 | 
| AIREbase | Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) | Mauno Vihinen | FF72 | 
| AK2base | reticular dysgenesis | Mauno Vihinen |  | 
| AP3B1base | Hermansky-Pudlak syndrome 2 | Mauno Vihinen | FF108 | 
| BIRC4base | X-linked lymphoproliferative syndrome | Mauno Vihinen | FF165 | 
| BLMbase | Bloom syndrome | Mauno Vihinen | FF89 | 
| BLNKbase | BLNK deficiency | Mauno Vihinen | FF24 | 
| BTKbase | X-linked agammaglobulinemia (XLA) | Mauno Vihinen 	 and C.I. Edvard Smith | FF22 | 
| C1QAbase | C1q α polypeptide deficiency | Mauno Vihinen | FF48 | 
| C1QBbase | C1q β polypeptide deficiency | Mauno Vihinen | FF49 | 
| C1QCbase | C1q γ-polypeptide deficiency | Mauno Vihinen | FF50 | 
| C1Sbase | C1s deficiency | Mauno Vihinen | FF52 | 
| C2base | C2 deficiency | Mauno Vihinen | FF90 | 
| C3base | C3 deficiency | Mauno Vihinen | FF61 | 
| C5base | C5 deficiency | Mauno Vihinen | FF91 | 
| C6base | C6 deficiency | Mauno Vihinen | FF10 | 
| C7base | C7 deficiency | Mauno Vihinen | FF93 | 
| C8Bbase | C8B deficiency | Mauno Vihinen | FF56 | 
| C9base | C9 deficiency | Mauno Vihinen | FF94 | 
| CARD9base | Caspase recruitment domain family, member 9 | Mauno Vihinen | ? | 
| CASP10base | Autoimmune lymphoproliferative syndrome, type II | Mauno Vihinen | FF109 | 
| CASP8base | Caspase 8 deficiency | Mauno Vihinen | FF110 | 
| CD19base | CD19 deficiency | Mauno Vihinen | FF150 | 
| CD247base | CD3ζ deficiency | Mauno Vihinen | FF149 | 
| CD3Dbase | CD3δ deficiency | Mauno Vihinen | FF111 | 
| CD3Ebase | CD3ε deficiency | Mauno Vihinen 	 and Jose R. Regueiro | FF20 | 
| CD3Gbase | CD3γ deficiency | Mauno Vihinen 	 and Jose R. Regueiro | FF21 | 
| CD40base | CD40 deficiency | Mauno Vihinen | FF18 | 
| CD40Lbase | X-linked Hyper-IgM syndrome (XHIM) | Mauno Vihinen 	 and Luigi D. Notarangelo | FF16 | 
| CD55base | Decay-accelerating factor (CD55) deficiency | Mauno Vihinen | FF102 | 
| CD59base | CD59 deficiency | Mauno Vihinen | FF103 | 
| CD79Abase | Igα deficiency | Mauno Vihinen | FF25 | 
| CD79Bbase | Igβ deficiency | Mauno Vihinen | FF159 | 
| CD8Abase | CD8α deficiency | Mauno Vihinen | FF64 | 
| CEBPEbase | Neutrophil-specific granule deficiency | Mauno Vihinen | FF112 | 
| CFDbase | Factor D deficiency | Mauno Vihinen | FF98 | 
| CFHbase | Factor H deficiency | Mauno Vihinen | FF101 | 
| CFIbase | Complement factor I deficiency | Mauno Vihinen | FF99 | 
| CFPbase | Properdin deficiency | Mauno Vihinen | FF100 | 
| CIITAbase | MHCII transactivating protein deficiency | Mauno Vihinen | FF12 | 
| CTSCbase | Papillon-Lefevre syndrome | Mauno Vihinen | FF154 | 
| CXCR4base | WHIM syndrome | Mauno Vihinen | FF7 | 
| CYBAbase | Autosomal recessive p22phox deficiency | Mauno Vihinen 	 and Dirk Roos | FF39 | 
| CYBBbase | X-linked chronic granulomatous disease (XCGD) | Mauno Vihinen 	 and Dirk Roos | FF38 | 
| DCLRE1Cbase | Artemis deficiency | Mauno Vihinen | FF5 | 
| DKC1base | Hoyeraal-Hreidarsson syndrome | Mauno Vihinen | FF113 | 
| DNMT3Bbase | ICF syndrome | Mauno Vihinen | FF124 | 
| ELA2base | Cyclic neutropenia; Congenital neutropenia | Mauno Vihinen | FF86 | 
| FASLGbase | Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) | Mauno Vihinen | FF37 | 
| FCGR1Abase | CD64 deficiency | Mauno Vihinen | FF132 | 
| FCGR3Abase | Natural killer cell deficiency | Mauno Vihinen | FF135 | 
| FERMT3base | leukocyte adhesion deficiency syndrome-III | Mauno Vihinen |  | 
| FOXN1base | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | Mauno Vihinen 	 and Claudio Pignata | FF128 | 
| FOXP3base | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX | Mauno Vihinen | FF78 | 
| G6PC3base | severe congenital neutropenia | Mauno Vihinen |  | 
| GFI1base | Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) | Mauno Vihinen | FF129 | 
| HAX1base | Severe congenital neutropenia (Kostmann disease) | Mauno Vihinen | FF85 | 
| ICOSbase | ICOS deficiency | Mauno Vihinen | FF116 | 
| IFNGR1base | IFNγ1-receptor deficiency | Mauno Vihinen | FF44 | 
| IFNGR2base | IFNγ2-receptor deficiency | Mauno Vihinen | FF45 | 
| IGHG2base | IgG2 deficiency | Mauno Vihinen | FF29 | 
| IGHMbase | μ heavy chain deficiency | Mauno Vihinen | FF26 | 
| IGLL1base | λ5surrogate light-chain deficiency | Mauno Vihinen | FF27 | 
| IKBKGbase | Nemo deficiency | Mauno Vihinen | FF19 | 
| IL12Bbase | Interleukin-12 (IL12) p40 deficiency | Mauno Vihinen | FF46 | 
| IL12RB1base | Interleukin-12 receptor β1 deficiency | Mauno Vihinen | FF47 | 
| IL2RAbase | Interleukin-2 receptor α deficiency | Mauno Vihinen | FF63 | 
| IL7Rbase | Interleukin-7 receptor α deficiency | Mauno Vihinen | FF106 | 
| IRAK4base | IRAK4 deficiency | Mauno Vihinen | FF117 | 
| ITGB2base | Leukocyte adhesion deficiency I (LAD-I) | Mauno Vihinen | FF42 | 
| JAK3base | Jak3 deficiency | Mauno Vihinen 	 and Luigi D. Notarangelo | FF9 | 
| LIG1base | DNA ligase I deficiency | Mauno Vihinen | FF131 | 
| LIG4base | LIG4 syndrome | Mauno Vihinen | FF118 | 
| LRRC8Abase | Non-Bruton type autosomal dominant agammaglobulinemia | Mauno Vihinen | FF151 | 
| LYSTbase | Chediak-Higashi syndrome | Mauno Vihinen | FF79 | 
| MAPBPIPbase | Endosomal adaptor protein p14 deficiency | Mauno Vihinen | FF161 | 
| MASP2base | MASP2 deficiency | Mauno Vihinen | FF119 | 
| MLPHbase | Griscelli syndrome, type 3 (GS3) | Mauno Vihinen | FF156 | 
| MPObase | Myeloperoxidase deficiency | Mauno Vihinen | FF82 | 
| MRE11Abase | Ataxia-telangiectasia-like disorder (ATLD) | Mauno Vihinen | FF120 | 
| MYO5Abase | Griscelli syndrome, type 1 (GS1) | Mauno Vihinen | FF80 | 
| NCF1base | Autosomal recessive p47phox deficiency | Mauno Vihinen 	 and Dirk Roos | FF40 | 
| NCF2base | Autosomal recessive p67phox deficiency | Mauno Vihinen 	 and Dirk Roos | FF41 | 
| NFKBIAbase | Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency | Mauno Vihinen | FF121 | 
| NHEJ1base | Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR | Mauno Vihinen | FF152 | 
| NPbase | PNP deficiency | Mauno Vihinen | FF11 | 
| NRASbase | Autoimmune lymphoproliferative syndrome type IV | Mauno Vihinen | FF162 | 
| ORAI1base | Severe combined immunodeficiency | Mauno Vihinen | FF147 | 
| PRF1base | Familial haemophagocytic lymphohistiocytosis, type II (FHL2) | Mauno Vihinen | FF105 | 
| PRKDCbase | severe combined immunodeficiency (DNA-PKc) | Mauno Vihinen 	DNA-PKcs |  | 
| PTPRCbase | CD45 deficiency | Mauno Vihinen | FF6 | 
| RAB27Abase | Griscelli syndrome, type 2 (GS2) | Mauno Vihinen | FF122 | 
| RAC2base | Neutrophil immunodeficiency syndrome | Mauno Vihinen | FF123 | 
| RAD50base | Nijmegen breakage syndrome-like syndrome | Mauno Vihinen |  | 
| RAG1base | RAG1 deficiency | Mauno Vihinen 	 and Anna Villa | FF2 | 
| RAG2base | RAG2 deficiency | Mauno Vihinen 	 and Anna Villa | FF3 | 
| RASGRP2base | Leukocyte adhesion deficiency III | Mauno Vihinen | FF139 | 
| RFX5base | MHCII promoter X box regulatory factor 5 deficiency | Mauno Vihinen | FF13 | 
| RFXANKbase | Ankyrin repeat containing regulatory factor X-associated protein deficiency | Mauno Vihinen | FF15 | 
| RFXAPbase | Regulatory factor X-associated protein deficiency | Mauno Vihinen | FF14 | 
| RNF168base | Ataxia telangiectasia | Mauno Vihinen |  | 
| SBDSbase | Shwachman-Diamond syndrome | Mauno Vihinen 	 and Laszlo Marodi | FF84 | 
| SERPING1base | Hereditary angioedema | Mauno Vihinen | FF97 | 
| SH2D1Abase | X-linked lymphoproliferative syndrome (XLP) | Mauno Vihinen 	and Luigi D. Notarangelo | FF73 | 
| SLC35C1base | Leukocyte adhesion deficiency I I (LAD-II) | Mauno Vihinen | FF43 | 
| SMARCAL1base | Schimke immuno-osseous dysplasia | Mauno Vihinen | FF148 | 
| SP110base | Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) | Mauno Vihinen | FF158 | 
| SPINK5base | Netherton syndrome | Mauno Vihinen | FF133 | 
| STAT1base | STAT1 deficiency | Mauno Vihinen | FF70 | 
| STAT2base | STAT2 deficiency | Mauno Vihinen | ? | 
| STAT3base | Hyper-IgE syndrome | Mauno Vihinen | FF167 | 
| STAT5Bbase | Growth hormone insensitivity with immunodeficiency | Mauno Vihinen | FF125 | 
| STIM1base | stromal interaction molecule | Mauno Vihinen |  | 
| STX11base | Familial haemophagocytic lymphohistiocytosis 4 | Mauno Vihinen | FF155 | 
| STXBP2base | Hemophagocytic lymphohistiocytosis | Mauno Vihinen |  | 
| TAP1base | TAP1 deficiency | Mauno Vihinen | FF107 | 
| TAP2base | TAP2 deficiency | Mauno Vihinen | FF60 | 
| TAPBPbase | Tapasin deficiency | Mauno Vihinen | FF136 | 
| TAZbase | Barth syndrome | Mauno Vihinen | FF134 | 
| TCN2base | Transcobalamin II deficiency | Mauno Vihinen | FF130 | 
| TLR3base | Influenza-associated encephalopathy | Mauno Vihinen | FF166 | 
| TMC6base | Epidermodysplasia verruciformis | Mauno Vihinen | FF114 | 
| TMC8base | Epidermodysplasia verruciformis | Mauno Vihinen | FF115 | 
| TNFRSF13Bbase | TACI deficiency | Mauno Vihinen | FF153 | 
| TYK2base | TYK2 deficiency | Mauno Vihinen | FF163 | 
| UNC13Dbase | Familial hemophagocytic lymphohistiocytosis 3 | Mauno Vihinen | FF126 | 
| UNC93B1base | UNC93B deficiency (Herpes simplex encephalitis) | Mauno Vihinen | FF164 | 
| UNGbase | UNG deficiency | Mauno Vihinen 	 and Anne Durandy | FF127 | 
| WASbase | Wiskott-Aldrich syndrome (WAS) | Mauno Vihinen | FF71 | 
| ZAP70base | ZAP70 deficiency | Mauno Vihinen | FF62 | 
   
    | Immunodeficiency mutation databases maintained by others (27 databases available)
 
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| AP3B1 | Hermansky-Pudlak syndrome 2 |  | FF108 | 
| ATM | Ataxia-telangiectasia |  | FF87 | 
| CASP10 | Autoimmune lymphoproliferative syndrome, type II |  | FF109 | 
| CFH | Haemolytic Uraemic Syndrome (HUS) |  | FF101 | 
| CTSC | Papillon Lefevre syndrome |  | FF154 | 
| FANCA | Fanconi anemia |  |  | 
| FANCB | Fanconi anemia |  |  | 
| FANCC | Fanconi anemia |  |  | 
| FANCD2 | Fanconi anemia |  |  | 
| FANCE | Fanconi anemia |  |  | 
| FANCF | Fanconi anemia |  |  | 
| FANCG | Fanconi anemia |  |  | 
| FANCL | Fanconi anemia |  |  | 
| FAS | Autoimmune lymphoproliferative syndrome, type Ia |  | FF36 | 
| IL2RG | X-linked SCID |  | FF8 | 
| LPIN2 | Majeed Syndrome |  |  | 
| LYST | Chediak-Higashi Syndrome |  | FF79 | 
| MEFV | Familial Mediterranean fever |  | FF140 | 
| MVK | Hyper IgD Syndrome and periodic fever |  | FF141 | 
| NLRP3 | Familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous and articular syndrome |  | FF143 | 
| NLRP7 | Recurrent Hydatidiform moles and reproductive wastage |  |  | 
| NOD2 | Blau syndrome, Chrohn's disease, Early Onset Sarcoidosis |  | FF146 | 
| PSTPIP1 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome |  |  | 
| SERPING1 | Hereditary angioedema |  | FF97 | 
| TAZ | Barth syndrome |  | FF134 | 
| TNFRSF1A | Tumor necrosis factor receptor-associated periodic syndrome |  | FF142 | 
| WAS | Wiskott-Aldrich syndrome |  | FF71 |