Currently we are maintaining 
 131  public IDbases 0  are under construction.

Immunodeficiency Mutation Databases:
(131 databases available)
ADAbaseAdenosine deaminase deficiency (ADA)Mauno Vihinen and Michael HershfieldFF10
AICDAbaseNon-X-linked hyper-IgM syndrome Mauno Vihinen and Anne DurandyFF17
AIREbaseAutoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) Mauno Vihinen FF72
AK2basereticular dysgenesisMauno Vihinen
AP3B1baseHermansky-Pudlak syndrome 2 Mauno Vihinen FF108
BIRC4baseX-linked lymphoproliferative syndromeMauno Vihinen FF165
BLMbaseBloom syndrome Mauno Vihinen FF89
BLNKbaseBLNK deficiency Mauno Vihinen FF24
BTKbaseX-linked agammaglobulinemia (XLA) Mauno Vihinen and C.I. Edvard SmithFF22
C1QAbaseC1q α polypeptide deficiency Mauno Vihinen FF48
C1QBbaseC1q β polypeptide deficiency Mauno Vihinen FF49
C1QCbaseC1q γ-polypeptide deficiencyMauno Vihinen FF50
C1SbaseC1s deficiency Mauno Vihinen FF52
C2baseC2 deficiency Mauno Vihinen FF90
C3baseC3 deficiency Mauno Vihinen FF61
C5baseC5 deficiency Mauno Vihinen FF91
C6baseC6 deficiency Mauno Vihinen FF10
C7baseC7 deficiency Mauno Vihinen FF93
C8BbaseC8B deficiencyMauno Vihinen FF56
C9baseC9 deficiency Mauno Vihinen FF94
CARD9baseCaspase recruitment domain family, member 9Mauno Vihinen
CASP10baseAutoimmune lymphoproliferative syndrome, type II Mauno Vihinen FF109
CASP8baseCaspase 8 deficiency Mauno Vihinen FF110
CD19baseCD19 deficiencyMauno Vihinen FF150
CD247baseCD3ζ deficiencyMauno Vihinen FF149
CD3DbaseCD3δ deficiency Mauno Vihinen FF111
CD3EbaseCD3ε deficiency Mauno Vihinen and Jose R. RegueiroFF20
CD3GbaseCD3γ deficiency Mauno Vihinen and Jose R. RegueiroFF21
CD40baseCD40 deficiencyMauno Vihinen FF18
CD40LbaseX-linked Hyper-IgM syndrome (XHIM) Mauno Vihinen and Luigi D. NotarangeloFF16
CD55baseDecay-accelerating factor (CD55) deficiencyMauno Vihinen FF102
CD59baseCD59 deficiency Mauno Vihinen FF103
CD79AbaseIgα deficiency Mauno Vihinen FF25
CD79BbaseIgβ deficiencyMauno Vihinen FF159
CD8AbaseCD8α deficiency Mauno Vihinen FF64
CEBPEbaseNeutrophil-specific granule deficiency Mauno Vihinen FF112
CFDbaseFactor D deficiencyMauno Vihinen FF98
CFHbaseFactor H deficiencyMauno Vihinen FF101
CFIbaseComplement factor I deficiencyMauno Vihinen FF99
CFPbaseProperdin deficiency Mauno Vihinen FF100
CIITAbaseMHCII transactivating protein deficiencyMauno Vihinen FF12
CTSCbasePapillon-Lefevre syndromeMauno Vihinen FF154
CXCR4baseWHIM syndrome Mauno Vihinen FF7
CYBAbaseAutosomal recessive p22phox deficiency Mauno Vihinen and Dirk RoosFF39
CYBBbaseX-linked chronic granulomatous disease (XCGD) Mauno Vihinen and Dirk RoosFF38
DCLRE1CbaseArtemis deficiency Mauno Vihinen FF5
DKC1baseHoyeraal-Hreidarsson syndrome Mauno Vihinen FF113
DNMT3BbaseICF syndrome Mauno Vihinen FF124
ELA2baseCyclic neutropenia; Congenital neutropenia Mauno Vihinen FF86
FASLGbaseAutoimmune lymphoproliferative syndrome, type 1B (ALPS1B)Mauno Vihinen FF37
FCGR1AbaseCD64 deficiency Mauno Vihinen FF132
FCGR3AbaseNatural killer cell deficiency Mauno Vihinen FF135
FERMT3baseleukocyte adhesion deficiency syndrome-IIIMauno Vihinen
FOXN1baseT-cell immunodeficiency, congenital alopecia, and nail dystrophyMauno Vihinen and Claudio PignataFF128
FOXP3baseImmunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEXMauno Vihinen FF78
G6PC3basesevere congenital neutropeniaMauno Vihinen
GFI1baseSevere congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)Mauno Vihinen FF129
HAX1baseSevere congenital neutropenia (Kostmann disease)Mauno Vihinen FF85
ICOSbaseICOS deficiency Mauno Vihinen FF116
IFNGR1baseIFNγ1-receptor deficiency Mauno Vihinen FF44
IFNGR2baseIFNγ2-receptor deficiency Mauno Vihinen FF45
IGHG2baseIgG2 deficiencyMauno Vihinen FF29
IGHMbaseμ heavy chain deficiency Mauno Vihinen FF26
IGLL1baseλ5surrogate light-chain deficiency Mauno Vihinen FF27
IKBKGbaseNemo deficiency Mauno Vihinen FF19
IL12BbaseInterleukin-12 (IL12) p40 deficiency Mauno Vihinen FF46
IL12RB1baseInterleukin-12 receptor β1 deficiency Mauno Vihinen FF47
IL2RAbaseInterleukin-2 receptor α deficiency Mauno Vihinen FF63
IL7RbaseInterleukin-7 receptor α deficiency Mauno Vihinen FF106
IRAK4baseIRAK4 deficiency Mauno Vihinen FF117
ITGB2baseLeukocyte adhesion deficiency I (LAD-I) Mauno Vihinen FF42
JAK3baseJak3 deficiency Mauno Vihinen and Luigi D. NotarangeloFF9
LIG1baseDNA ligase I deficiency Mauno Vihinen FF131
LIG4baseLIG4 syndromeMauno Vihinen FF118
LRRC8Abase Non-Bruton type autosomal dominant agammaglobulinemiaMauno Vihinen FF151
LYSTbaseChediak-Higashi syndromeMauno Vihinen FF79
MAPBPIPbaseEndosomal adaptor protein p14 deficiencyMauno Vihinen FF161
MASP2baseMASP2 deficiency Mauno Vihinen FF119
MLPHbaseGriscelli syndrome, type 3 (GS3)Mauno Vihinen FF156
MPObaseMyeloperoxidase deficiencyMauno Vihinen FF82
MRE11AbaseAtaxia-telangiectasia-like disorder (ATLD) Mauno Vihinen FF120
MYO5AbaseGriscelli syndrome, type 1 (GS1)Mauno Vihinen FF80
NCF1baseAutosomal recessive p47phox deficiency Mauno Vihinen and Dirk RoosFF40
NCF2baseAutosomal recessive p67phox deficiency Mauno Vihinen and Dirk RoosFF41
NFKBIAbaseAutosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency Mauno Vihinen FF121
NHEJ1baseCombined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IRMauno Vihinen FF152
NPbasePNP deficiency Mauno Vihinen FF11
NRASbaseAutoimmune lymphoproliferative syndrome type IVMauno Vihinen FF162
ORAI1baseSevere combined immunodeficiencyMauno Vihinen FF147
PRF1baseFamilial haemophagocytic lymphohistiocytosis, type II (FHL2) Mauno Vihinen FF105
PRKDCbasesevere combined immunodeficiency (DNA-PKc)Mauno Vihinen DNA-PKcs
PTPRCbaseCD45 deficiency Mauno Vihinen FF6
RAB27AbaseGriscelli syndrome, type 2 (GS2) Mauno Vihinen FF122
RAC2baseNeutrophil immunodeficiency syndrome Mauno Vihinen FF123
RAD50baseNijmegen breakage syndrome-like syndromeMauno Vihinen
RAG1baseRAG1 deficiency Mauno Vihinen and Anna VillaFF2
RAG2baseRAG2 deficiency Mauno Vihinen and Anna VillaFF3
RASGRP2baseLeukocyte adhesion deficiency IIIMauno Vihinen FF139
RFX5baseMHCII promoter X box regulatory factor 5 deficiency Mauno Vihinen FF13
RFXANKbaseAnkyrin repeat containing regulatory factor X-associated protein deficiency Mauno Vihinen FF15
RFXAPbaseRegulatory factor X-associated protein deficiency Mauno Vihinen FF14
RNF168baseAtaxia telangiectasiaMauno Vihinen
SBDSbaseShwachman-Diamond syndromeMauno Vihinen and Laszlo MarodiFF84
SERPING1baseHereditary angioedema Mauno Vihinen FF97
SH2D1AbaseX-linked lymphoproliferative syndrome (XLP) Mauno Vihinen and Luigi D. NotarangeloFF73
SLC35C1baseLeukocyte adhesion deficiency I I (LAD-II)Mauno Vihinen FF43
SMARCAL1baseSchimke immuno-osseous dysplasiaMauno Vihinen FF148
SP110baseHepatic veno-occlusive disease with immunodeficiency syndrome (VODI)Mauno Vihinen FF158
SPINK5baseNetherton syndrome Mauno Vihinen FF133
STAT1baseSTAT1 deficiency Mauno Vihinen FF70
STAT2baseSTAT2 deficiency Mauno Vihinen
STAT3baseHyper-IgE syndromeMauno Vihinen FF167
STAT5BbaseGrowth hormone insensitivity with immunodeficiency Mauno Vihinen FF125
STIM1basestromal interaction moleculeMauno Vihinen
STX11baseFamilial haemophagocytic lymphohistiocytosis 4Mauno Vihinen FF155
STXBP2baseHemophagocytic lymphohistiocytosisMauno Vihinen
TAP1baseTAP1 deficiency Mauno Vihinen FF107
TAP2baseTAP2 deficiency Mauno Vihinen FF60
TAPBPbaseTapasin deficiencyMauno Vihinen FF136
TAZbaseBarth syndrome Mauno Vihinen FF134
TCN2baseTranscobalamin II deficiency Mauno Vihinen FF130
TLR3baseInfluenza-associated encephalopathyMauno Vihinen FF166
TMC6baseEpidermodysplasia verruciformisMauno Vihinen FF114
TMC8baseEpidermodysplasia verruciformisMauno Vihinen FF115
TNFRSF13BbaseTACI deficiencyMauno Vihinen FF153
TYK2baseTYK2 deficiencyMauno Vihinen FF163
UNC13DbaseFamilial hemophagocytic lymphohistiocytosis 3 Mauno Vihinen FF126
UNC93B1baseUNC93B deficiency (Herpes simplex encephalitis)Mauno Vihinen FF164
UNGbaseUNG deficiency Mauno Vihinen and Anne DurandyFF127
WASbaseWiskott-Aldrich syndrome (WAS)Mauno Vihinen FF71
ZAP70baseZAP70 deficiency Mauno Vihinen FF62

Other Databases:
(6 databases available)
KinMutBaseKinase mutation databaseMauno Vihinen and Csaba Ortutay
SH2baseDatabase for pathogenic SH2 domain variations Mauno Vihinen
PIK3R1baseDatabase for pathogenic variations in the p85α SH2 domainMauno Vihinen
PTPN11baseDatabase for pathogenic variations in the SHP-2 SH2 domainMauno Vihinen
RASA1baseDatabase for pathogenic variations in the RasGAP SH2 domainMauno Vihinen
TCIRG1baseAutosomal recessive osteopetrosis (arOP)Mauno Vihinen

Immunodeficiency mutation databases maintained by others
(27 databases available)
AP3B1Hermansky-Pudlak syndrome 2 FF108 
ATMAtaxia-telangiectasia FF87 
CASP10Autoimmune lymphoproliferative syndrome, type II FF109 
CFHHaemolytic Uraemic Syndrome (HUS)FF101 
CTSCPapillon Lefevre syndromeFF154 
FANCAFanconi anemia  
FANCBFanconi anemia  
FANCCFanconi anemia  
FANCD2Fanconi anemia  
FANCEFanconi anemia  
FANCFFanconi anemia  
FANCGFanconi anemia  
FANCLFanconi anemia  
FASAutoimmune lymphoproliferative syndrome, type Ia FF36 
IL2RGX-linked SCID FF8 
LPIN2Majeed Syndrome 
LYSTChediak-Higashi Syndrome FF79 
MEFVFamilial Mediterranean fever FF140 
MVKHyper IgD Syndrome and periodic fever FF141 
NLRP3 Familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous and articular syndrome FF143 
NLRP7Recurrent Hydatidiform moles and reproductive wastage 
NOD2Blau syndrome, Chrohn's disease, Early Onset SarcoidosisFF146 
PSTPIP1Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome  
SERPING1Hereditary angioedema FF97 
TAZBarth syndromeFF134 
TNFRSF1ATumor necrosis factor receptor-associated periodic syndrome FF142 
WASWiskott-Aldrich syndrome FF71 

Database staff
Mauno Vihinen Group leader
Jouni Väliaho Database management
Abhishek Niroula Database management
Gerard Schaafsma Database management

Former database staff
Ilkka Lappalainen Database management
Juha Ollila Database management
Hilkka Piirilä Database management
Tuomo YlinenDatabase management
Pentti Riikonen Program development
Hannu Korhonen System manager
Samuoi Huhtamäki Program development