Protein structures

Combined B and T cell immunodeficiencies
T-B- Severe combined immunodeficiency (SCID)
Disease Fact file Gene Structures
Reticular dysgenesis 1
RAG1 deficiency 2 RAG1 PDB: 1RMD
RAG2 deficiency 3 RAG2
Omenn syndrome 4 RAG1 PDB: 1RMD
Artemis deficiency 5 DCLRE1C
Disease Fact file Gene Structures
X-linked SCID(γc-chain deficiency) 8 IL2RG
JAK3 deficiency 9 JAK3
Interleukin 7 receptor deficiency 106 IL7R
CD45 deficiency 6 PTPRC
CD3delta deficiency 111 CD3D
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 128 FOXN1
Deficiencies of purine metabolism
Disease Fact file Gene Structures
Adenosine deaminase deficiency 10 ADA
Purine nucleoside phosphorylase deficiency 11 NP PDB: 1ULA, PDB: 1ULB
Major histocompatibility complex class II deficiency
Disease Fact file Gene Structures
CIITA, MHCII transactivating protein deficiency 12 CIITA
RFX-5, MHCII promoter X box regulatory factor 5 deficiency 13 RFX5
Regulatory factor X-associated protein deficiency 14 RFXAP
RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency 15 RFXANK
Major histocompatibility complex class I deficiency
Disease Fact file Gene Structures
TAP2 deficiency 60 TAP2
TAP1 deficiency 107 TAP1 PDB: 1JJ7
Tapasin deficiency 136 TAPBP
Hyper-IgM syndrome
Disease Fact file Gene Structures
X-linked hyper-IgM syndrome (CD40L deficiency) 16 TNFSF5 PDB: 1ALY, PDB: 1CDA
CD40 deficiency 18 CD40 PDB: 1CDF
CD3 deficiency
Disease Fact file Gene Structures
CD3ε deficiency 20 CD3E
CD3γ deficiency 21 CD3G
CD3Zeta deficiency 149 CD247 PDB: 1TCE
Disease Fact file Gene Structures
ZAP-70 deficiency 62 ZAP70
IL-2 receptor α-chain deficiency (CD25 deficiency) 63 IL2RA PDB: 1ILM, PDB: 1ILN
CD8α deficiency 64 CD8A PDB: 1CD8
p56 Lck deficiency 137 LCK PDB: 1BHF, PDB: 1BHH, PDB: 1CWD, PDB: 1CWE, PDB: 1FBZ, PDB: 1H92, PDB: 1IJR, PDB: 1KIK, PDB: 1LCJ, PDB: 1LCK, PDB: 1LKK, PDB: 1LKL, PDB: 1Q68, PDB: 1Q69, PDB: 1QPC, PDB: 1QPD, PDB: 1QPE, PDB: 1QPJ, PDB: 3LCK
Schimke immuno-osseous dysplasia 148 SMARCAL1
Cernunnos deficiency 152 NHEJ1
TMEM142 deficiency 147 ORAI1
Deficiencies predominantly affecting antibody production
Disease Fact file Gene Structures
X-linked agammaglobulinemia 22 BTK PDB: 1BTK, PDB: 1AWW, PDB: 1AWX, PDB: 1B55, PDB: 1BWN, PDB: 1K2P
X-linked hypogammaglobulinemia with growth hormone deficiency 23
BLNK deficiency 24 BLNK
Igα deficiency 25 CD79A
μ heavy-chain deficiency 26 IGHM
λ5 surrogate light-chain deficiency 27 IGLL1
Non-Bruton type autosomal dominant agammaglobulinemia 151 LRRC8A
Igβ deficiency 159 CD79B
Light-chain deficiency
Disease Fact file Gene Structures
κ light-chain deficiency 65 IGKC
Selective deficiency of IgG subclass, IgE and/or IgA class or subclass
Disease Fact file Gene Structures
γ1 isotype deficiency 28 IGHG1 PDB: 1FC1, PDB: 1FC2
γ2 isotype deficiency 29 IGHG2
Partial γ3 isotype deficiency 30 IGHG3
γ4 isotype deficiency 31 IGHG4
α1 isotype deficiency 32 IGHA1
α2 isotype deficiency 33 IGHA2
ε isotype deficiency 34 IGHE PDB: 1IGE
IgG subclass deficiency with or without IgA deficiency 35
IgA deficiency 67 IGAD1
Common variable immunodeficiency
Disease Fact file Gene Structures
Common variable immunodeficiency of unknown origin 66
ICOS deficiency 116 ICOS
TNFRSF13B deficiency 153 TNFRSF13B PDB: 1XU1, PDB: 1XUT
Other antibody deficiencies
Disease Fact file Gene Structures
Antibody deficiency with normal immunoglobulin levels 68
Transient hypogammaglobulinemia of infancy 69
CD19 deficiency 150 CD19
Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Disease Fact file Gene Structures
AID deficiency 17 AICDA
UNG deficiency 127 UNG PDB: 1AKZ, PDB: 1EMH, PDB: 1EMJ, PDB: 1SSP, PDB: 1UGH, PDB: 2SSP, PDB: 4SKN
Selective deficiency in Ig class-switch recombination 138
Defects in lymphocyte apoptosis
Autoimmune lymphoproliferative syndrome
Disease Fact file Gene Structures
Autoimmune lymphoproliferative syndrome, type Ia 36 TNFRSF6 PDB: 1DDF
Autoimmune lymphoproliferative syndrome, type 1B 37 FASLG
Autoimmune lymphoproliferative syndrome type II 109 CASP10
Autoimmune lymphoproliferative syndrome type IIB 110 CASP8 PDB: 1F9E, PDB: 1QDU, PDB: 1QTN
ALPS type III 162 NRAS
Other well-defined immunodeficiency syndromes
Wiskott-Aldrich syndrome and X-linked thrombocytopenia71 WAS
Autoimmune disorders
Disease Fact file Gene Structures
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy 72 AIRE
X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX) 78 FOXP3
X-linked lymphoproliferative disease (Duncan disease)73 SH2D1A PDB: 1D1Z
DiGeorge-anomaly74 DGCR
Hyper-IgE recurrent infection syndrome75 TYK2
Chronic mucocutaneous candidiasis76
Cartilage-hair hypoplasia77 RMRP
Epidermodysplasia verruciformis
Disease Fact file Gene Structures
Epidermodysplasia verruciformis type 1 114 TMC6
Epidermodysplasia verruciformis type 2 115 TMC8
Netherton syndrome133 SPINK5 PDB: 1H0Z, PDB: 1HDL
Natural killer deficiency135 FCGR3A
Transcobalamin II deficiency130 TCN2
Osteopetrosis, AR157 TCIRG1
Hepatic veno-oclussive disease with immunodeficiency syndrome158 SP110
Tyk2 deficiency163 TYK2
X-linked lymphoproliferative syndrome 2165 BIRC4 PDB: 1C9Q, PDB: 1F9X, PDB: 1G3F, PDB: 1G73, PDB: 1I3O, PDB: 1I4O, PDB: 1I51, PDB: 1KMC, PDB: 1NW9, PDB: 1TFQ
STAT3 deficiency167 STAT3
Defects of phagocyte function
Chronic granulomatous disease
Disease Fact file Gene Structures
X-linked chronic granulomatous disease 38 CYBB
p22phox deficiency 39 CYBA
p47phox deficiency 40 NCF1 PDB: 1GD5
p67phox deficiency 41 NCF2 PDB: 1E96
Leukocyte adhesion defects
Disease Fact file Gene Structures
Leukocyte adhesion deficiency I 42 ITGB2
Leukocyte adhesion deficiency II 43 SLC35C1
LAD3 deficiency 139 RASGRP2
LAD with RAC2 deficiency 123 RAC2 PDB: 1DS6
Chediak-Higashi syndrome79 LYST
Griscelli syndrome
Disease Fact file Gene Structures
Griscelli syndrome, type 1 80 MYO5A
Griscelli syndrome, type 2 122 RAB27A
Griscelli syndrome, type 3 156 MLPH
Glucose 6-phosphate dehydrogenase deficiency81 G6PD
Myeloperoxidase deficiency82 MPO PDB: 1MHL, PDB: 1CXP, PDB: 1D2V, PDB: 1D5L, PDB: 1D7W, PDB: 1DNU, PDB: 1DNW
Glycogen storage disease Ib83 G6PC
Shwachman syndrome84 SBDS
Disease Fact file Gene Structures
Severe congenital neutropenias, including Kostmann syndrome 85 CSF3R PDB: 1AZ7
Cyclic neutropenia 86 ELA2 PDB: 1HNE, PDB: 1PPF, PDB: 1PPG, PDB: 1B0F
GFI1 deficiency 129 GFI1
Familial haemophagocytic lymphohistiocytosis
Disease Fact file Gene Structures
Familial haemophagocytic lymphohistiocytosis type 1 104
Familial haemophagocytic lymphohistiocytosis type 2 105 PRF1
Familial hemophagocytic lymphohistiocytosis 3 126 UNC13D
Familial haemophagocytic lymphohistiocytosis type 4 155 STX11
Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita113 DKC1
CD64 deficiency132 FCGR1A
Hermansky-Pudlak syndrome 2108 AP3B1
Barth syndrome134 TAZ
Neutrophil-specific granule deficiency112 CEBPE
Papillon-Lefevre syndrome154 CTSC PDB: 1K3B
Disorders of pigmentation and immunodeficiency
Disease Fact file Gene Structures
p14 deficiency 161 MAPBPIP
Defects of innate immune system, receptors and signaling components
Interferon-γ (IFNγ) receptor deficiency
Disease Fact file Gene Structures
IFNγ1-receptor deficiency 44 IFNGR1 PDB: 1JRH, PDB: 1FG9
IFNγ2-receptor deficiency 45 IFNGR2
Interleukin-12 receptor β1 deficiency47 IL12RB1
Interleukin-12 (IL-12) p40 deficiency46 IL12B
STAT1 deficiency70 STAT1 PDB: 1BF5
STAT5b deficiency125 STAT5B
IRAK4 deficiency117 IRAK4
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency121 NFKBIA
WHIM syndrome7 CXCR4
X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)19 IKBKG
UNC93B deficiency164 UNC93B1
TLR3 deficiency166 TLR3 PDB: 1ZIW, PDB: 2A0Z
DNA breakage associated syndromes and DNA epigenetic modification syndromes
DNA-breakage-associated syndromes
Disease Fact file Gene Structures
Ataxia-telengiectasia 87 ATM
Nijmegen-breakage syndrome 88 NBS1
Ataxia-telangiectasia-like disorder 120 MRE11A
DNA ligase deficiency
Disease Fact file Gene Structures
DNA ligase I deficiency 131 LIG1
DNA ligase deficiency IV 118 LIG4 PDB: 1IK9
Bloom syndrome89 BLM
Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)124 DNMT3B
Defects of the classical complement cascade proteins
C1q deficiency
Disease Fact file Gene Structures
C1q α-polypeptide deficiency 48 C1QA
C1q β-polypeptide deficiency 49 C1QB
C1q γ-polypeptide deficiency 50 C1QC
C1r and C1s deficiency
Disease Fact file Gene Structures
C1r deficiency 51 C1R PDB: 1APQ
C1s deficiency 52 C1S
C2 deficiency90 C2
C3 deficiency61 C3 PDB: 1C3D
C4 deficiency
Disease Fact file Gene Structures
C4A deficiency 53 C4A
C4B deficiency 54 C4B
C5 deficiency91 C5 PDB: 1KJS, PDB: 1CFA
C6 deficiency92 C6
C7 deficiency93 C7
C8 deficiency
Disease Fact file Gene Structures
C8 α-polypeptide deficiency 55 C8A
C8 β-polypeptide deficiency 56 C8B
C8 γ-polypeptide deficiency 57 C8G
C9 deficiency94 C9
Defects of the alternative complement pathway
Factor B deficiency95 BF
Factor D deficiency98 CFD PDB: 1DFP, PDB: 1DST, PDB: 1DSU
Factor H1 deficiency101 CFH PDB: 1HCC, PDB: 1HFH, PDB: 1HFI
Properdin factor C deficiency100 CFP
Defects of complement regulatory proteins
Hereditary angioedema
Disease Fact file Gene Structures
Hereditary angioedema 97 SERPING1
C4-binding protein deficiency
Disease Fact file Gene Structures
C4 binding protein α deficiency 58 C4BPA
C4 binding protein β deficiency 59 C4BPB
Hereditary angioedema type III 160 F12
Decay-accelerating factor (CD55) deficiency102 CD55
Factor I deficiency99 CFI
MAC inhibitor (CD59) deficiency103 CD59 PDB: 1CDQ, PDB: 1CDR, PDB: 1CDS, PDB: 1ERG, PDB: 1ERH
Mannose-binding lectin deficiency
Disease Fact file Gene Structures
Mannose-binding lectin deficiency 96 MBL2 PDB: 1HUP
Mannan-binding lectin - associated serine protease 2 deficiency 119 MASP2
Periodic fever syndromes
Familial mediterranean fever140 MEFV
Hyperimmunoglobulinemia D with periodic fever syndrome141 MVK
Tumor necrosis factor receptor-associated periodic syndrome142 TNFRSF1A PDB: 1EXT, PDB: 1FT4, PDB: 1ICH, PDB: 1NCF, PDB: 1TNR
Cold autoinflammatory syndrome
Disease Fact file Gene Structures
Familial cold urticaria and Muckle-Wells syndrome 143 CIAS1
Chronic infantile neurological cutaneous and articular syndrome 144 CIAS1
Granulomatous sinovitis with uveitis and cranial neuropathies145 CARD15
Crohn's disease146 CARD15