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| Immunodeficiency Variation Databases: | ||
| ADAbase | FF10 | Adenosine deaminase deficiency (ADA) |
| AICDAbase | FF17 | Non-X-linked hyper-IgM syndrome |
| AIREbase | FF72 | Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) |
| AK2base | reticular dysgenesis | |
| AP3B1base | FF108 | Hermansky-Pudlak syndrome 2 |
| BIRC4base | FF165 | X-linked lymphoproliferative syndrome |
| BLMbase | FF89 | Bloom syndrome |
| BLNKbase | FF24 | BLNK deficiency |
| BTKbase | FF22 | X-linked agammaglobulinemia (XLA) |
| C1QAbase | FF48 | C1q α polypeptide deficiency |
| C1QBbase | FF49 | C1q β polypeptide deficiency |
| C1QCbase (previously known as C1QGbase) | FF50 | C1q γ-polypeptide deficiency |
| C1Sbase | FF52 | C1s deficiency |
| C2base | FF90 | C2 deficiency |
| C3base | FF61 | C3 deficiency |
| C5base | FF91 | C5 deficiency |
| C6base | FF10 | C6 deficiency |
| C7base | FF93 | C7 deficiency |
| C8Bbase | FF56 | C8B deficiency |
| C9base | FF94 | C9 deficiency |
| CARD9base | Caspase recruitment domain family, member 9 | |
| CASP10base | FF109 | Autoimmune lymphoproliferative syndrome, type II |
| CASP8base | FF110 | Caspase 8 deficiency |
| CD19base | FF150 | CD19 deficiency |
| CD247base | FF149 | CD3ζ deficiency |
| CD3Dbase | FF111 | CD3δ deficiency |
| CD3Ebase | FF20 | CD3ε deficiency |
| CD3Gbase | FF21 | CD3γ deficiency |
| CD40base (previously known as TNFRSF5base) | FF18 | CD40 deficiency |
| CD40Lbase | FF16 | X-linked Hyper-IgM syndrome (XHIM) |
| CD55base (previously known as DAFbase) | FF102 | Decay-accelerating factor (CD55) deficiency |
| CD59base | FF103 | CD59 deficiency |
| CD79Abase | FF25 | Igα deficiency |
| CD79Bbase | FF159 | Igβ deficiency |
| CD8Abase | FF64 | CD8α deficiency |
| CEBPEbase | FF112 | Neutrophil-specific granule deficiency |
| CFDbase (previously known as DFbase) | FF98 | Factor D deficiency |
| CFHbase (previously known as HF1base) | FF101 | Factor H deficiency |
| CFIbase (previously known as IFbase) | FF99 | Complement factor I deficiency |
| CFPbase (previously known as PFCbase) | FF100 | Properdin deficiency |
| CIITAbase (previously known as MHC2TAbase) | FF12 | MHCII transactivating protein deficiency |
| CTSCbase | FF154 | Papillon-Lefevre syndrome |
| CXCR4base | FF7 | WHIM syndrome |
| CYBAbase | FF39 | Autosomal recessive p22phox deficiency |
| CYBBbase (previously known as X-CGDbase) | FF38 | X-linked chronic granulomatous disease (XCGD) |
| DCLRE1Cbase | FF5 | Artemis deficiency |
| DKC1base | FF113 | Hoyeraal-Hreidarsson syndrome |
| DNMT3Bbase | FF124 | ICF syndrome |
| ELA2base | FF86 | Cyclic neutropenia; Congenital neutropenia |
| FASLGbase (previously known as TNFSF6base) | FF37 | Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) |
| FCGR1Abase | FF132 | CD64 deficiency |
| FCGR3Abase | FF135 | Natural killer cell deficiency |
| FERMT3base | leukocyte adhesion deficiency syndrome-III | |
| FOXN1base (previously known as WHNbase) | FF128 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| FOXP3base | FF78 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX |
| G6PC3base | severe congenital neutropenia | |
| GFI1base | FF129 | Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) |
| HAX1base | FF85 | Severe congenital neutropenia (Kostmann disease) |
| ICOSbase | FF116 | ICOS deficiency |
| IFNGR1base | FF44 | IFNγ1-receptor deficiency |
| IFNGR2base | FF45 | IFNγ2-receptor deficiency |
| IGHG2base | FF29 | IgG2 deficiency |
| IGHMbase | FF26 | μ heavy chain deficiency |
| IGLL1base | FF27 | λ5surrogate light-chain deficiency |
| IKBKGbase | FF19 | Nemo deficiency |
| IL12Bbase | FF46 | Interleukin-12 (IL12) p40 deficiency |
| IL12RB1base | FF47 | Interleukin-12 receptor β1 deficiency |
| IL2RAbase | FF63 | Interleukin-2 receptor α deficiency |
| IL7Rbase | FF106 | Interleukin-7 receptor α deficiency |
| IRAK4base | FF117 | IRAK4 deficiency |
| ITGB2base | FF42 | Leukocyte adhesion deficiency I (LAD-I) |
| JAK3base | FF9 | Jak3 deficiency |
| LIG1base | FF131 | DNA ligase I deficiency |
| LIG4base | FF118 | LIG4 syndrome |
| LRRC8Abase | FF151 | Non-Bruton type autosomal dominant agammaglobulinemia |
| LYSTbase (previously known as CHS1base) | FF79 | Chediak-Higashi syndrome |
| MAPBPIPbase | FF161 | Endosomal adaptor protein p14 deficiency |
| MASP2base | FF119 | MASP2 deficiency |
| MLPHbase | FF156 | Griscelli syndrome, type 3 (GS3) |
| MPObase | FF82 | Myeloperoxidase deficiency |
| MRE11Abase | FF120 | Ataxia-telangiectasia-like disorder (ATLD) |
| MYO5Abase | FF80 | Griscelli syndrome, type 1 (GS1) |
| NCF1base | FF40 | Autosomal recessive p47phox deficiency |
| NCF2base | FF41 | Autosomal recessive p67phox deficiency |
| NFKBIAbase | FF121 | Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency |
| NHEJ1base | FF152 | Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR |
| NPbase | FF11 | PNP deficiency |
| NRASbase | FF162 | Autoimmune lymphoproliferative syndrome type IV |
| ORAI1base (previously known as TMEM142Abase) | FF147 | Severe combined immunodeficiency |
| PRF1base | FF105 | Familial haemophagocytic lymphohistiocytosis, type II (FHL2) |
| PRKDCbase | severe combined immunodeficiency (DNA-PKc) | |
| PTPRCbase | FF6 | CD45 deficiency |
| RAB27Abase | FF122 | Griscelli syndrome, type 2 (GS2) |
| RAC2base | FF123 | Neutrophil immunodeficiency syndrome |
| RAD50base | Nijmegen breakage syndrome-like syndrome | |
| RAG1base | FF2 | RAG1 deficiency |
| RAG2base | FF3 | RAG2 deficiency |
| RASGRP2base | FF139 | Leukocyte adhesion deficiency III |
| RFX5base | FF13 | MHCII promoter X box regulatory factor 5 deficiency |
| RFXANKbase | FF15 | Ankyrin repeat containing regulatory factor X-associated protein deficiency |
| RFXAPbase | FF14 | Regulatory factor X-associated protein deficiency |
| RNF168base | Ataxia telangiectasia | |
| SBDSbase | FF84 | Shwachman-Diamond syndrome |
| SERPING1base | FF97 | Hereditary angioedema |
| SH2D1Abase | FF73 | X-linked lymphoproliferative syndrome (XLP) |
| SLC35C1base (previously known as FUCT1base) | FF43 | Leukocyte adhesion deficiency I I (LAD-II) |
| SMARCAL1base | FF148 | Schimke immuno-osseous dysplasia |
| SP110base | FF158 | Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) |
| SPINK5base | FF133 | Netherton syndrome |
| STAT1base | FF70 | STAT1 deficiency |
| STAT2base | STAT2 deficiency | |
| STAT3base | FF167 | Hyper-IgE syndrome |
| STAT5Bbase | FF125 | Growth hormone insensitivity with immunodeficiency |
| STIM1base | stromal interaction molecule | |
| STX11base | FF155 | Familial haemophagocytic lymphohistiocytosis 4 |
| STXBP2base | Hemophagocytic lymphohistiocytosis | |
| TAP1base | FF107 | TAP1 deficiency |
| TAP2base | FF60 | TAP2 deficiency |
| TAPBPbase | FF136 | Tapasin deficiency |
| TAZbase | FF134 | Barth syndrome |
| TCN2base | FF130 | Transcobalamin II deficiency |
| TLR3base | FF166 | Influenza-associated encephalopathy |
| TMC6base (previously known as EVER1base) | FF114 | Epidermodysplasia verruciformis |
| TMC8base (previously known as EVER2base) | FF115 | Epidermodysplasia verruciformis |
| TNFRSF13Bbase | FF153 | TACI deficiency |
| TYK2base | FF163 | TYK2 deficiency |
| UNC13Dbase | FF126 | Familial hemophagocytic lymphohistiocytosis 3 |
| UNC93B1base | FF164 | UNC93B deficiency (Herpes simplex encephalitis) |
| UNGbase | FF127 | UNG deficiency |
| WASbase | FF71 | Wiskott-Aldrich syndrome (WAS) |
| ZAP70base | FF62 | ZAP70 deficiency |
| See also: Immunodeficiency variation databases maintained by others Human Genome Variation Society (HGVS): Locus Specific Mutation Databases |