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 (previously known as C1QGbase) | 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 (previously known as TNFRSF5base) | Mauno Vihinen | FF18 |
| CD40Lbase | X-linked Hyper-IgM syndrome (XHIM) | Mauno Vihinen and Luigi D. Notarangelo | FF16 |
| CD55base | Decay-accelerating factor (CD55) deficiency (previously known as DAFbase) | 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 (previously known as DFbase) | Mauno Vihinen | FF98 |
| CFHbase | Factor H deficiency (previously known as HF1base) | Mauno Vihinen | FF101 |
| CFIbase | Complement factor I deficiency (previously known as IFbase) | Mauno Vihinen | FF99 |
| CFPbase | Properdin deficiency (previously known as PFCbase) | Mauno Vihinen | FF100 |
| CIITAbase | MHCII transactivating protein deficiency (previously known as MHC2TAbase) | 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) (previously known as X-CGDbase) | 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) (previously known as TNFSF6base) | 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 (previously known as WHNbase) | 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 (previously known as CHS1base) | 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 (previously known as TMEM142Abase) | 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) (previously known as FUCT1base) | 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 (previously known as EVER1base) | Mauno Vihinen | FF114 |
| TMC8base | Epidermodysplasia verruciformis (previously known as EVER2base) | 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)
|
| 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 |