Reference sequences for immunodeficiency causing mutations

Combined B and T cell immunodeficiencies
T-B- Severe combined immunodeficiency (SCID)
Disease Gene DNA RNA Protein Others Fact file
Reticular dysgenesis 1
RAG1 deficiency RAG1 EMBL: M29474 SWISSPROT: P15918 2
RAG2 deficiency RAG2 EMBL: M94633 EMBL:  M94633 SWISSPROT: P55895 3
Omenn syndrome RAG1 EMBL: M29474, EMBL:  M94633 SWISSPROT: P15918, SWISSPROT: P55895 4
Artemis deficiency DCLRE1C EMBL: AJ296101 EMBL: AJ296101 SWISSPROT: Q96SD1 5
Disease Gene DNA RNA Protein Others Fact file
X-linked SCID(γc-chain deficiency) IL2RG EMBL: L19546 EMBL: D11086 SWISSPROT: P31785 Others 8
JAK3 deficiency JAK3 EMBL: U70065 EMBL: U31601 SWISSPROT: P52333 Others 9
Interleukin 7 receptor deficiency IL7R EMBL: M29696, EMBL: AF043129 EMBL: X58957 SWISSPROT: P16871 Others 106
CD45 deficiency PTPRC IDRefSeq: PTPRC_DNA EMBL: Y00638 SWISSPROT: P08575 6
CD3delta deficiency CD3D EMBL: X03934, EMBL: M12727, EMBL: X01451 EMBL: X58957 SWISSPROT: P04234 Others 111
T-cell immunodeficiency, congenital alopecia, and nail dystrophy FOXN1 EMBL: Y11741, EMBL: Y11739 EMBL: X58957 SWISSPROT: O15353 Others 128
Deficiencies of purine metabolism
Disease Gene DNA RNA Protein Others Fact file
Adenosine deaminase deficiency ADA EMBL: M13792 EMBL: X02994 SWISSPROT: P00813 Others 10
Purine nucleoside phosphorylase deficiency NP EMBL: M13953 EMBL: X00737 SWISSPROT: P00491 Others 11
Major histocompatibility complex class II deficiency
Disease Gene DNA RNA Protein Others Fact file
CIITA, MHCII transactivating protein deficiency CIITA EMBL: X87344 EMBL: U18259 SWISSPROT: P33076 12
RFX-5, MHCII promoter X box regulatory factor 5 deficiency RFX5 IDRefSeq: RFX5_DNA EMBL: X85786 SWISSPROT: P48382 13
Regulatory factor X-associated protein deficiency RFXAP EMBL: AL159973 EMBL: Y12812 SWISSPROT: O00287 14
RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency RFXANK IDRefSeq: RFXANK_DNA EMBL: AF094760 SWISSPROT: O14593 Others 15
Major histocompatibility complex class I deficiency
Disease Gene DNA RNA Protein Others Fact file
TAP2 deficiency TAP2 EMBL: X66401 EMBL: M84748 SWISSPROT: Q03519 60
TAP1 deficiency TAP1 EMBL: X66401, EMBL: X57521, EMBL: X57522, EMBL: L21204, EMBL: L21205, EMBL: L21206, EMBL: L21207, EMBL: L21208, EMBL: X87344, EMBL: S70274 EMBL: X58957 SWISSPROT: Q03518 107
Tapasin deficiency TAPBP EMBL: Z97183 EMBL: AF029750 SWISSPROT: O15533 Others 136
Hyper-IgM syndrome
Disease Gene DNA RNA Protein Others Fact file
X-linked hyper-IgM syndrome (CD40L deficiency) TNFSF5 EMBL: D31793, EMBL: D31794, EMBL: D31795, EMBL: D31796, EMBL: D31797 EMBL: X68550 SWISSPROT: P29965 Others 16
CD40 deficiency CD40 EMBL: AL035662 EMBL: X60592 SWISSPROT: P25942 Others 18
CD3 deficiency
Disease Gene DNA RNA Protein Others Fact file
CD3ε deficiency CD3E EMBL: M23317 EMBL: X03884 SWISSPROT: P07766 Others 20
CD3γ deficiency CD3G EMBL: M23317 EMBL: X04145 SWISSPROT: P09693 Others 21
CD3Zeta deficiency CD247 IDRefSeq: D0115 EMBL: J04132 SWISSPROT: P20963 Others 149
Disease Gene DNA RNA Protein Others Fact file
ZAP-70 deficiency ZAP70 EMBL: AC016699 EMBL: L05148 SWISSPROT: P43403 62
IL-2 receptor α-chain deficiency (CD25 deficiency) IL2RA EMBL: IL2RA_DNA EMBL: X01057 SWISSPROT: P01589 Others 63
CD8α deficiency CD8A EMBL: M27161 EMBL: M12828 SWISSPROT: P01732 Others 64
p56 Lck deficiency LCK EMBL: X14055 EMBL: X13529 SWISSPROT: P06239 Others 137
Schimke immuno-osseous dysplasia SMARCAL1 IDRefSeq: IDRefSeq: D0079 EMBL: AF082179 SWISSPROT: Q9NZC9 Others 148
Cernunnos deficiency NHEJ1 IDRefSeq: D0113 EMBL: AJ972687 SWISSPROT: Q9H9Q4 Others 152
TMEM142 deficiency ORAI1 IDRefSeq: IDRefSeq: D0114 EMBL: BC013386 SWISSPROT: Q96D31 Others 147
Deficiencies predominantly affecting antibody production
Disease Gene DNA RNA Protein Others Fact file
X-linked agammaglobulinemia BTK EMBL: U78027 EMBL: X58957 SWISSPROT: Q06187 Others 22
X-linked hypogammaglobulinemia with growth hormone deficiency 23
BLNK deficiency BLNK IDRefSeq: BLNK_DNA EMBL: AF068180 SWISSPROT: O75498 24
Igα deficiency CD79A EMBL: U05259 EMBL: M86921, EMBL: X13451, EMBL: S75217, EMBL: S46706, EMBL: M80462, EMBL: X83540, EMBL: M74721 SWISSPROT: C79A_HUMAN 25
μ heavy-chain deficiency IGHM EMBL: X57331 EMBL: X17115 SWISSPROT: P01871 Others 26
λ5 surrogate light-chain deficiency IGLL1 IDRefSeq: IGLL1_DNA EMBL: M27749 SWISSPROT: P15814 27
Non-Bruton type autosomal dominant agammaglobulinemia LRRC8A IDRefSeq: D0055 EMBL: AY143166 SWISSPROT: Q8IWT6 Others 151
Igβ deficiency CD79B IDRefSeq: IDRefSeq: D0126 EMBL: BC030210 SWISSPROT: Q6PIS4 159
Light-chain deficiency
Disease Gene DNA RNA Protein Others Fact file
κ light-chain deficiency IGKC EMBL: J00241, EMBL: V00557 GeneBank: AB004304 65
Selective deficiency of IgG subclass, IgE and/or IgA class or subclass
Disease Gene DNA RNA Protein Others Fact file
γ1 isotype deficiency IGHG1 GenBank: J00228 GenBank: AB066922 SWISSPROT: P01857 28
γ2 isotype deficiency IGHG2 GenBank: J00230 GenBank: AJ294731 SWISSPROT: P01859 Others 29
Partial γ3 isotype deficiency IGHG3 GenBank: D78345 EMBL: J00231 SWISSPROT: P01860 30
γ4 isotype deficiency IGHG4 GenBank: K01316 GenBank:  BC025985 SWISSPROT: P01861 31
α1 isotype deficiency IGHA1 EMBL: J00220 Genbank: AK092384 SWISSPROT: P01876 32
α2 isotype deficiency IGHA2 EMBL: J00221 GenBank: AL389978 SWISSPROT: P01877 33
ε isotype deficiency IGHE EMBL: L00022 SWISSPROT: P01854 34
IgG subclass deficiency with or without IgA deficiency 35
IgA deficiency IGAD1 67
Common variable immunodeficiency
Disease Gene DNA RNA Protein Others Fact file
Common variable immunodeficiency of unknown origin 66
ICOS deficiency ICOS EMBL: AF411058 GenBank: AB023135 SWISSPROT: Q9Y6W8 116
TNFRSF13B deficiency TNFRSF13B IDRefSeq: D0105 EMBL: AF023614 SWISSPROT: O14836 Others 153
Other antibody deficiencies
Disease Gene DNA RNA Protein Others Fact file
Antibody deficiency with normal immunoglobulin levels 68
Transient hypogammaglobulinemia of infancy 69
CD19 deficiency CD19 IDRefSeq: CD19D EMBL: M21097 SWISSPROT: P15391 Others 150
Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Disease Gene DNA RNA Protein Others Fact file
AID deficiency AICDA EMBL: AB040430 EMBL: AB040431 TrEMBL: Q9GZX7 Others 17
UNG deficiency UNG EMBL: X15653, EMBL: X89398, EMBL: X89398, EMBL: Y09008, EMBL: AF526277, EMBL: BC015205, EMBL: BC050634 EMBL: X58957 SWISSPROT: P13051 127
Selective deficiency in Ig class-switch recombination 138
Defects in lymphocyte apoptosis
Autoimmune lymphoproliferative syndrome
Disease Gene DNA RNA Protein Others Fact file
Autoimmune lymphoproliferative syndrome, type Ia TNFRSF6 EMBL:  Z96050 EMBL: X89102 Entrez: AAC16237 Others 36
Autoimmune lymphoproliferative syndrome, type 1B FASLG EMBL: Z96050 EMBL: X89102 SWISSPROT: P48023 Others 37
Autoimmune lymphoproliferative syndrome type II CASP10 EMBL: U60519, EMBL: U86214, EMBL: AF111344, EMBL: AF111345, EMBL: AB038978, EMBL: AB038979 EMBL: X58957 SWISSPROT: Q92851 Others 109
Autoimmune lymphoproliferative syndrome type IIB CASP8 EMBL: X98172, EMBL: X98173, EMBL: X98174, EMBL: X98175, EMBL: X98176, EMBL: X98177, EMBL: X98178, EMBL: U58143, EMBL: U60520, EMBL: AF102146, EMBL: AF009620, EMBL: AB038985, EMBL: AF380342, EMBL: AF422925, EMBL: AF422926, EMBL: AF422927, EMBL: AF422928, EMBL: AF422929, EMBL: BC028223 EMBL: X58957 SWISSPROT: Q14790 Others 110
ALPS type III NRAS IDRefSeq: D0125 EMBL: X02751 SWISSPROT: P01111 Others 162
Other well-defined immunodeficiency syndromes
Wiskott-Aldrich syndrome and X-linked thrombocytopeniaWAS EMBL: AF196970 EMBL: U12707 SWISSPROT: P42768 Others 71
Autoimmune disorders
Disease Gene DNA RNA Protein Others Fact file
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy AIRE EMBL: AB006684 EMBL: AB006682 SWISSPROT: O43918 Others 72
X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX) FOXP3 78
X-linked lymphoproliferative disease (Duncan disease)SH2D1A EMBL: AL022718 EMBL: AL023657 SWISSPROT: O60880 Others 73
DiGeorge-anomalyDGCR 74
Hyper-IgE recurrent infection syndromeTYK2 IDRefSeq: D0118, IDRefSeq: xxx EMBL: X54637, EMBL: L29277 SWISSPROT: P29597, SWISSPROT: P40763 OthersOthers 75
Chronic mucocutaneous candidiasis 76
Cartilage-hair hypoplasiaRMRP 77
Epidermodysplasia verruciformis
Disease Gene DNA RNA Protein Others Fact file
Epidermodysplasia verruciformis type 1 TMC6 EMBL: BC018346 EMBL: X58957 SWISSPROT: Q7L2M4 114
Epidermodysplasia verruciformis type 2 TMC8 EMBL: AK090478 EMBL: X58957 SWISSPROT: Q8NF04 115
Netherton syndromeSPINK5 EMBL: AJ228139, EMBL: AJ391230, EMBL: AF295784, EMBL: AF295783 EMBL: X58957 SWISSPROT: Q9NQ38 Others 133
Natural killer deficiencyFCGR3A EMBL: X52645, EMBL: Z46222 EMBL: X58957 SWISSPROT: P08637 135
Transcobalamin II deficiencyTCN2 EMBL: M60396, EMBL: L02647, EMBL: L02648, EMBL: AF047576, EMBL: AC005006, EMBL: BC001176 EMBL: X58957 SWISSPROT: P20062 130
Osteopetrosis, ARTCIRG1 IDRefSeq: D0101 EMBL: U45285 SWISSPROT: Q13488 Others 157
Hepatic veno-oclussive disease with immunodeficiency syndromeSP110 IDRefSeq: D0116 EMBL: L22342 GenBank: NP_536349.1 Others 158
Tyk2 deficiencyTYK2 IDRefSeq: D0118 EMBL: X54637 SWISSPROT: P29597 Others 163
X-linked lymphoproliferative syndrome 2BIRC4 IDRefSeq: D0120 EMBL: U45880 SWISSPROT: P98170 Others 165
STAT3 deficiencySTAT3 IDRefSeq: D0128 EMBL: L29277 SWISSPROT: P40763 Others 167
Defects of phagocyte function
Chronic granulomatous disease
Disease Gene DNA RNA Protein Others Fact file
X-linked chronic granulomatous disease CYBB EMBL: X05895 EMBL: X04011 SWISSPROT: P04839 Others 38
p22phox deficiency CYBA GenBank: M61106 EMBL: M21186 SWISSPROT: P13498 Others 39
p47phox deficiency NCF1 EMBL: U57833 EMBL: M25665 SWISSPROT: P14598 Others 40
p67phox deficiency NCF2 IDRefSeq: NCF2_DNA EMBL: M32011 SWISSPROT: P19878 Others 41
Leukocyte adhesion defects
Disease Gene DNA RNA Protein Others Fact file
Leukocyte adhesion deficiency I ITGB2 EMBL: AL163300 EMBL: M15395 SWISSPROT: P05107 Others 42
Leukocyte adhesion deficiency II SLC35C1 EMBL: IDRefSeq: SLC35C1_DNA EMBL: AF323970 SWISSPROT: Q96A29 Others 43
LAD3 deficiency RASGRP2 IDRefSeq: D0127 EMBL: AF081194 SWISSPROT: Q7LDG7 Others 139
LAD with RAC2 deficiency RAC2 EMBL: M29871, EMBL: AF498965, EMBL: Z82188, EMBL: BC001485, EMBL: M64595 EMBL: X58957 SWISSPROT: P15153 123
Chediak-Higashi syndromeLYST EMBL: AL121997, EMBL: AL121997, EMBL: AL121997 EMBL: U84744, EMBL: U67615, EMBL: U72192, EMBL: L77889, EMBL: U70064 79
Griscelli syndrome
Disease Gene DNA RNA Protein Others Fact file
Griscelli syndrome, type 1 MYO5A EMBL: MYO5A_DNA EMBL: U90942, EMBL: Y07759, EMBL: Y07759, EMBL: Z22957, EMBL: S74799, EMBL: AF055459 UniProt/Swiss-Prot: Q9Y4I1 80
Griscelli syndrome, type 2 RAB27A EMBL: U38654, EMBL: U57094, EMBL: AF154840, EMBL: AF125393, EMBL: AF443871, EMBL: AF498953 EMBL: X58957 SWISSPROT: P51159 Others 122
Griscelli syndrome, type 3 MLPH IDRefSeq: D0059 EMBL: AK022207 SWISSPROT: Q9BV36 Others 156
Glucose 6-phosphate dehydrogenase deficiencyG6PD NCBI: AF277315, EMBL: L44140, EMBL: X55448, EMBL: M23423, EMBL: X53815 NCBI: BC000337 Others 81
Myeloperoxidase deficiencyMPO EMBL: M17176, EMBL: X15377, EMBL: A08802 EMBL: M19507, EMBL: X04876, EMBL: J02694, EMBL: S56200 SWISSPROT: P05164 Others 82
Glycogen storage disease IbG6PC NCBI: AF097831 NCBI: U01120 NCBI: AAD19898 83
Shwachman syndromeSBDS IDRefSeq: SBDS_DNA EMBL: AY169963 SWISSPROT: Q9Y3A5 Others 84
Disease Gene DNA RNA Protein Others Fact file
Severe congenital neutropenias, including Kostmann syndrome CSF3R EMBL: S71484 EMBL: X55721, EMBL: X55720, EMBL: M59818, EMBL: M59819, EMBL: M59820 NCBI: AAN05790 85
Cyclic neutropenia ELA2 EMBL: Y00477, EMBL: M20203 EMBL: J03545, EMBL: X05875, EMBL: X05875, EMBL: M34379, EMBL: D00187 NCBI: AAS89303 Others 86
GFI1 deficiency GFI1 EMBL: U67369, EMBL: BC032751 EMBL: X58957 SWISSPROT: Q99684 129
Familial haemophagocytic lymphohistiocytosis
Disease Gene DNA RNA Protein Others Fact file
Familial haemophagocytic lymphohistiocytosis type 1 104
Familial haemophagocytic lymphohistiocytosis type 2 PRF1 EMBL: M31951 EMBL: M28393 SWISSPROT: P14222 Others 105
Familial hemophagocytic lymphohistiocytosis 3 UNC13D EMBL: AJ578444, EMBL: AK024474, EMBL: BC067084 EMBL: X58957 SWISSPROT: Q9H7K5 126
Familial haemophagocytic lymphohistiocytosis type 4 STX11 IDRefSeq: D0083 EMBL: AF071504 SWISSPROT: O75558 Others 155
Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenitaDKC1 EMBL: AJ224481, EMBL: U59151, EMBL: AF067008, EMBL: AF067023, EMBL: AJ010395, EMBL: BC009928, EMBL: BC010015 EMBL: X58957 SWISSPROT: O60832 Others 113
CD64 deficiencyFCGR1A EMBL: X14356, EMBL: X14355, EMBL: L03418, EMBL: M91555 EMBL: X58957 SWISSPROT: P12314 Others 132
Hermansky-Pudlak syndrome 2AP3B1 EMBL: U91931, EMBL: U81504, EMBL: BX538041, EMBL: BC038444, EMBL: AF247736 EMBL: X58957 SWISSPROT: O00203 108
Barth syndromeTAZ EMBL: X92763, EMBL: X92762 EMBL: X58957 SWISSPROT: Q16635 Others 134
Neutrophil-specific granule deficiencyCEBPE EMBL: U48865, EMBL: U48866, EMBL: U80982 EMBL: X58957 SWISSPROT: Q15744 112
Papillon-Lefevre syndromeCTSC IDRefSeq: D0022 EMBL: X87212 SWISSPROT: P53634 Others 154
Disorders of pigmentation and immunodeficiency
Disease Gene DNA RNA Protein Others Fact file
p14 deficiency MAPBPIP IDRefSeq: D0123 EMBL: C0123 SWISSPROT: Q9Y2Q5 161
Defects of innate immune system, receptors and signaling components
Interferon-γ (IFNγ) receptor deficiency
Disease Gene DNA RNA Protein Others Fact file
IFNγ1-receptor deficiency IFNGR1 EMBL: AL050337 EMBL: J03143 SWISSPROT: P15260 Others 44
IFNγ2-receptor deficiency IFNGR2 EMBL: AP001717 EMBL: U05875 SWISSPROT: P38484 Others 45
Interleukin-12 receptor β1 deficiencyIL12RB1 IDRefSeq: IL12RB_DNA EMBL: U03187 SWISSPROT: P42701 Others 47
Interleukin-12 (IL-12) p40 deficiencyIL12B EMBL: AY008847 EMBL: M65290 SWISSPROT: P29460 Others 46
STAT1 deficiencySTAT1 IDRefSeq: STAT1_DNA EMBL: M97935 SWISSPROT: P42224 Others 70
STAT5b deficiencySTAT5B EMBL: U48730, EMBL: U47686, EMBL: AJ412888 EMBL: X58957 SWISSPROT: P51692 Others 125
IRAK4 deficiencyIRAK4 EMBL: AF445802 EMBL: X58957 SWISSPROT: Q8TDF7 117
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiencyNFKBIA EMBL: M69043, EMBL: AJ249294, EMBL: AY033600, EMBL: BC002601, EMBL: BC004983 EMBL: X58957 SWISSPROT: P25963 Others 121
WHIM syndromeCXCR4 EMBL: AF005058 EMBL: NM_003467 SWISSPROT: P30991 Others 7
X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)IKBKG EMBL: AJ271718 EMBL: AF091453 SWISSPROT: Q9Y6K9 19
UNC93B deficiencyUNC93B1 IDRefSeq: D0122 EMBL: BC033623 SWISSPROT: Q05BS6 164
TLR3 deficiencyTLR3 IDRefSeq: D0124 EMBL: U88879 SWISSPROT: O15455 166
DNA breakage associated syndromes and DNA epigenetic modification syndromes
DNA-breakage-associated syndromes
Disease Gene DNA RNA Protein Others Fact file
Ataxia-telengiectasia ATM EMBL: U82828, EMBL: U67092, EMBL: U55757, EMBL: U55757 EMBL: U33841, EMBL: U26455, EMBL: X91196 Others 87
Nijmegen-breakage syndrome NBS1 88
Ataxia-telangiectasia-like disorder MRE11A EMBL: U37359, EMBL: AF022778, EMBL: AF073362, EMBL: AF303395 EMBL: X58957 SWISSPROT: P49959 Others 120
DNA ligase deficiency
Disease Gene DNA RNA Protein Others Fact file
DNA ligase I deficiency LIG1 EMBL: M36067, EMBL: AF527418 EMBL: X58957 SWISSPROT: P18858 131
DNA ligase deficiency IV LIG4 EMBL: X83441, EMBL: AF479264 EMBL: X58957 SWISSPROT: P49917 118
Bloom syndromeBLM EMBL: AC002312 EMBL: U39817 SWISSPROT: P54132 89
Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)DNMT3B EMBL: AL035071 EMBL: X58957 SWISSPROT: Q9UBC3 Others 124
Defects of the classical complement cascade proteins
C1q deficiency
Disease Gene DNA RNA Protein Others Fact file
C1q α-polypeptide deficiency C1QA C1QAbase: C1QA_DNA EMBL: AF135157 SWISSPROT: P02745 48
C1q β-polypeptide deficiency C1QB NCBI: AL158086 GenBank: NM_000491 SWISSPROT: P02746 Others 49
C1q γ-polypeptide deficiency C1QC NCBI: AL158086 EMBL: BC009016 SWISSPROT: P02747 Others 50
C1r and C1s deficiency
Disease Gene DNA RNA Protein Others Fact file
C1r deficiency C1R GenBank:  AB083037 EMBL: M14058 SWISSPROT: P00736 Others 51
C1s deficiency C1S C1Sbase: C1S_DNA EMBL: J04080 SWISSPROT: P09871 Others 52
C2 deficiencyC2 EMBL: AF019413 EMBL: X04481 SWISSPROT: P06681 Others 90
C3 deficiencyC3 EMBL:  C3_DNA EMBL: K02765 SWISSPROT: P01024 61
C4 deficiency
Disease Gene DNA RNA Protein Others Fact file
C4A deficiency C4A GenBank: AL929593 GenBank: NM_007293 SWISSPROT: P01028 Others 53
C4B deficiency C4B GenBank: HSMHCT8S22 GenBank: NM_000592 SWISSPROT: P01028 Others 54
C5 deficiencyC5 EMBL: AC006430 EMBL: M57729 SWISSPROT: P01031 Others 91
C6 deficiencyC6 C6base: C6_DNA GenBank: NM_000065 SWISSPROT: P13671 Others 92
C7 deficiencyC7 C7base: C7_DNA EMBL: J03507 SWISSPROT: P10643 Others 93
C8 deficiency
Disease Gene DNA RNA Protein Others Fact file
C8 α-polypeptide deficiency C8A EMBL: AL121998 EMBL: M16974 SWISSPROT: P07357 Others 55
C8 β-polypeptide deficiency C8B EMBL: AL121998 EMBL: M16973 SWISSPROT: P07358 Others 56
C8 γ-polypeptide deficiency C8G EMBL: U08198 EMBL: X06465 SWISSPROT: P07360 Others 57
C9 deficiencyC9 C9base: C9_DNA EMBL: X02176 SWISSPROT: P02748 Others 94
Defects of the alternative complement pathway
Factor B deficiencyBF GenBank: AF019413 GenBank: NM_001710 SWISSPROT: P00751 Others 95
Factor D deficiencyCFD EMBL: M84526 SWISSPROT: P00746 98
Factor H1 deficiencyCFH EMBL: AL049744 EMBL: Y00716 SWISSPROT: P08603 Others 101
Properdin factor C deficiencyCFP EMBL: X70872 GenBank: NM_002621 SWISSPROT: P27918 Others 100
Defects of complement regulatory proteins
Hereditary angioedema
Disease Gene DNA RNA Protein Others Fact file
Hereditary angioedema SERPING1 GenBank: AF435921 GenBank: NM_000062 SWISSPROT: P05155 Others 97
C4-binding protein deficiency
Disease Gene DNA RNA Protein Others Fact file
C4 binding protein α deficiency C4BPA GenBank: AL445493 EMBL: BC022312 SWISSPROT: P04003 Others 58
C4 binding protein β deficiency C4BPB GenBank: AL44549 EMBL: L11244 SWISSPROT: P20851 Others 59
Hereditary angioedema type III F12 IDRefSeq: D0119 EMBL: M31315 SWISSPROT: P00748 Others 160
Decay-accelerating factor (CD55) deficiencyCD55 GenBank: AB003312 EMBL: M31516 SWISSPROT: P08174 Others 102
Factor I deficiencyCFI IDRefSeq: IF_DNA EMBL: J02770 SWISSPROT: P05156 Others 99
MAC inhibitor (CD59) deficiencyCD59 EMBL: M84345, EMBL: M84349, EMBL: Z14113 EMBL: M27909, EMBL: M95708, EMBL: X16447, EMBL: X17198, EMBL: X15861, EMBL: M34671 SWISSPROT: P13987 Others 103
Mannose-binding lectin deficiency
Disease Gene DNA RNA Protein Others Fact file
Mannose-binding lectin deficiency MBL2 EMBL: X15954, EMBL: AF080510, EMBL: Y16576, EMBL: Y16577, EMBL: Y16578, EMBL: Y16579, EMBL: Y16580, EMBL: Y16581, EMBL: Y16582 EMBL: X15422, EMBL: AF360991 GenPept: BAB17020 Others 96
Mannan-binding lectin - associated serine protease 2 deficiency MASP2 EMBL: Y09926, EMBL: X98400, EMBL: Y18281, EMBL: Y18283, EMBL: Y18284, EMBL: Y18286, EMBL: Y18286, EMBL: Y18287, EMBL: Y18287, EMBL: AB008047, EMBL: AB033742, EMBL: AF321562, EMBL: AF321558 EMBL: X58957 SWISSPROT: O00187 Others 119
Periodic fever syndromes
Familial mediterranean feverMEFV EMBL: AJ003147 EMBL: AF018080 SWISSPROT: O15553 Others 140
Hyperimmunoglobulinemia D with periodic fever syndromeMVK EMBL: AF217535 EMBL: M88468 SWISSPROT: Q03426 Others 141
Tumor necrosis factor receptor-associated periodic syndromeTNFRSF1A EMBL: M75866 EMBL: X55313 SWISSPROT: P19438 Others 142
Cold autoinflammatory syndrome
Disease Gene DNA RNA Protein Others Fact file
Familial cold urticaria and Muckle-Wells syndrome CIAS1 EMBL: AY051117 EMBL: AF410477 SWISSPROT: Q96P20 Others 143
Chronic infantile neurological cutaneous and articular syndrome CIAS1 EMBL: AY051117 EMBL: AF410477 SWISSPROT: Q96P20 Others 144
Granulomatous sinovitis with uveitis and cranial neuropathiesCARD15 EMBL: AF385089 EMBL: AF178930 SWISSPROT: Q9HC29 Others 145
Crohn's diseaseCARD15 EMBL: AF385089 EMBL: AF178930 SWISSPROT: Q9HC29 Others 146