Animal models

Combined B and T cell immunodeficiencies
T-B- Severe combined immunodeficiency (SCID)
Disease Fact file Gene Animal models
Reticular dysgenesis 1
RAG1 deficiency 2 RAG1 Mus musculus (Mouse):
RAG2 deficiency 3 RAG2 Mus musculus (Mouse):
Omenn syndrome 4 RAG1 Mus musculus (Mouse): Mus musculus (Mouse):
Artemis deficiency 5 DCLRE1C FlyBase::
T-B+ SCID
Disease Fact file Gene Animal models
X-linked SCID(γc-chain deficiency) 8 IL2RG M. musculus:: FlyBase::
JAK3 deficiency 9 JAK3 Mouse:: FlyBase::
Interleukin 7 receptor deficiency 106 IL7R Mouse: Rat:
CD45 deficiency 6 PTPRC Mouse: Fly: C. elegans:
CD3delta deficiency 111 CD3D Mouse: Rat:
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 128 FOXN1 Mouse:
Deficiencies of purine metabolism
Disease Fact file Gene Animal models
Adenosine deaminase deficiency 10 ADA Mouse::
Purine nucleoside phosphorylase deficiency 11 NP Mouse: FlyBase: C. elegans:
Major histocompatibility complex class II deficiency
Disease Fact file Gene Animal models
CIITA, MHCII transactivating protein deficiency 12 CIITA Mouse: Fly: C. elegans:
RFX-5, MHCII promoter X box regulatory factor 5 deficiency 13 RFX5 Mouse: Fly: C. elegans:
Regulatory factor X-associated protein deficiency 14 RFXAP Fly: C. elegans:
RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency 15 RFXANK Mouse: Fly: C. elegans:
Major histocompatibility complex class I deficiency
Disease Fact file Gene Animal models
TAP2 deficiency 60 TAP2
TAP1 deficiency 107 TAP1 Mouse: Rat:
Tapasin deficiency 136 TAPBP Mouse: Rat:
Hyper-IgM syndrome
Disease Fact file Gene Animal models
X-linked hyper-IgM syndrome (CD40L deficiency) 16 TNFSF5 Mus musculus (Mouse):
CD40 deficiency 18 CD40
CD3 deficiency
Disease Fact file Gene Animal models
CD3ε deficiency 20 CD3E Mouse: Fly: C. elegans:
CD3γ deficiency 21 CD3G Mouse: Fly: C. elegans:
CD3Zeta deficiency 149 CD247 Mouse:
Other
Disease Fact file Gene Animal models
ZAP-70 deficiency 62 ZAP70
IL-2 receptor α-chain deficiency (CD25 deficiency) 63 IL2RA
CD8α deficiency 64 CD8A
p56 Lck deficiency 137 LCK Mouse: Rat:
Schimke immuno-osseous dysplasia 148 SMARCAL1 Mouse:
Cernunnos deficiency 152 NHEJ1 Mouse:
TMEM142 deficiency 147 ORAI1
Deficiencies predominantly affecting antibody production
Agammaglobulinemia
Disease Fact file Gene Animal models
X-linked agammaglobulinemia 22 BTK Mouse:
X-linked hypogammaglobulinemia with growth hormone deficiency 23
BLNK deficiency 24 BLNK Mouse: Fly: C. elegans:
Igα deficiency 25 CD79A
μ heavy-chain deficiency 26 IGHM Mouse: Fly:
λ5 surrogate light-chain deficiency 27 IGLL1 Mouse: C. elegans:
Non-Bruton type autosomal dominant agammaglobulinemia 151 LRRC8A Mouse:
Igβ deficiency 159 CD79B Mouse:
Light-chain deficiency
Disease Fact file Gene Animal models
κ light-chain deficiency 65 IGKC Mouse: R.norvegicus :
Selective deficiency of IgG subclass, IgE and/or IgA class or subclass
Disease Fact file Gene Animal models
γ1 isotype deficiency 28 IGHG1 Mouse: Fly:
γ2 isotype deficiency 29 IGHG2 Fly:
Partial γ3 isotype deficiency 30 IGHG3 Fly:
γ4 isotype deficiency 31 IGHG4 Fly:
α1 isotype deficiency 32 IGHA1 Fly:
α2 isotype deficiency 33 IGHA2 Fly:
ε isotype deficiency 34 IGHE Mouse: Fly:
IgG subclass deficiency with or without IgA deficiency 35
IgA deficiency 67 IGAD1
Common variable immunodeficiency
Disease Fact file Gene Animal models
Common variable immunodeficiency of unknown origin 66
ICOS deficiency 116 ICOS Mouse:
TNFRSF13B deficiency 153 TNFRSF13B Mouse:
Other antibody deficiencies
Disease Fact file Gene Animal models
Antibody deficiency with normal immunoglobulin levels 68
Transient hypogammaglobulinemia of infancy 69
CD19 deficiency 150 CD19 Mouse:
Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Disease Fact file Gene Animal models
AID deficiency 17 AICDA Mouse: Fly: C.elegans:
UNG deficiency 127 UNG Mouse:
Selective deficiency in Ig class-switch recombination 138
Defects in lymphocyte apoptosis
Autoimmune lymphoproliferative syndrome
Disease Fact file Gene Animal models
Autoimmune lymphoproliferative syndrome, type Ia 36 TNFRSF6 Mouse: Fly:
Autoimmune lymphoproliferative syndrome, type 1B 37 FASLG Mouse: Fly:
Autoimmune lymphoproliferative syndrome type II 109 CASP10 Mouse:
Autoimmune lymphoproliferative syndrome type IIB 110 CASP8 Mouse: Rat:
ALPS type III 162 NRAS Mouse:
Other well-defined immunodeficiency syndromes
Wiskott-Aldrich syndrome and X-linked thrombocytopenia 71 WAS
Autoimmune disorders
Disease Fact file Gene Animal models
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
DiGeorge-anomaly 74 DGCR
Hyper-IgE recurrent infection syndrome 75 TYK2 Mouse: Mouse:
Chronic mucocutaneous candidiasis 76
Cartilage-hair hypoplasia 77 RMRP
Epidermodysplasia verruciformis
Disease Fact file Gene Animal models
Epidermodysplasia verruciformis type 1 114 TMC6 Mouse:
Epidermodysplasia verruciformis type 2 115 TMC8 Mouse:
Netherton syndrome 133 SPINK5 Mouse: Rat:
Natural killer deficiency 135 FCGR3A Mouse: Rat:
Transcobalamin II deficiency 130 TCN2 Mouse: Rat:
Osteopetrosis, AR 157 TCIRG1 Mouse:
Hepatic veno-oclussive disease with immunodeficiency syndrome 158 SP110
Tyk2 deficiency 163 TYK2 Mouse:
X-linked lymphoproliferative syndrome 2 165 BIRC4 Mouse:
STAT3 deficiency 167 STAT3 Mouse:
Defects of phagocyte function
Chronic granulomatous disease
Disease Fact file Gene Animal models
X-linked chronic granulomatous disease 38 CYBB Mouse: C. elegans:
p22phox deficiency 39 CYBA Mouse: Fly: C. elegans:
p47phox deficiency 40 NCF1 Mouse: Fly: C. elegans:
p67phox deficiency 41 NCF2 Mouse: Fly: C. elegans:
Leukocyte adhesion defects
Disease Fact file Gene Animal models
Leukocyte adhesion deficiency I 42 ITGB2 Mouse: Fly: C. elegans:
Leukocyte adhesion deficiency II 43 SLC35C1
LAD3 deficiency 139 RASGRP2 Mouse:
LAD with RAC2 deficiency 123 RAC2 Mouse:
Chediak-Higashi syndrome 79 LYST
Griscelli syndrome
Disease Fact file Gene Animal models
Griscelli syndrome, type 1 80 MYO5A
Griscelli syndrome, type 2 122 RAB27A Mouse:
Griscelli syndrome, type 3 156 MLPH Mouse:
Glucose 6-phosphate dehydrogenase deficiency 81 G6PD
Myeloperoxidase deficiency 82 MPO
Glycogen storage disease Ib 83 G6PC
Shwachman syndrome 84 SBDS Mouse:
Neutropenia
Disease Fact file Gene Animal models
Severe congenital neutropenias, including Kostmann syndrome 85 CSF3R Mouse:
Cyclic neutropenia 86 ELA2 Mouse:
GFI1 deficiency 129 GFI1 Mouse:
Familial haemophagocytic lymphohistiocytosis
Disease Fact file Gene Animal models
Familial haemophagocytic lymphohistiocytosis type 1 104
Familial haemophagocytic lymphohistiocytosis type 2 105 PRF1
Familial hemophagocytic lymphohistiocytosis 3 126 UNC13D Mouse:
Familial haemophagocytic lymphohistiocytosis type 4 155 STX11 Mouse:
Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita 113 DKC1 Mouse:
CD64 deficiency 132 FCGR1A Mouse: Rat:
Hermansky-Pudlak syndrome 2 108 AP3B1 Mouse: Rat:
Barth syndrome 134 TAZ Mouse:
Neutrophil-specific granule deficiency 112 CEBPE Mouse: Rat:
Papillon-Lefevre syndrome 154 CTSC Mouse:
Disorders of pigmentation and immunodeficiency
Disease Fact file Gene Animal models
p14 deficiency 161 MAPBPIP Mouse:
Defects of innate immune system, receptors and signaling components
Interferon-γ (IFNγ) receptor deficiency
Disease Fact file Gene Animal models
IFNγ1-receptor deficiency 44 IFNGR1 Mouse: Fly:
IFNγ2-receptor deficiency 45 IFNGR2 Mouse: Fly:
Interleukin-12 receptor β1 deficiency 47 IL12RB1 Mouse: Fly:
Interleukin-12 (IL-12) p40 deficiency 46 IL12B Mouse: Fly:
STAT1 deficiency 70 STAT1 Mouse:
STAT5b deficiency 125 STAT5B Mouse:
IRAK4 deficiency 117 IRAK4 Mouse:
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency 121 NFKBIA Mouse: Rat:
WHIM syndrome 7 CXCR4
X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency) 19 IKBKG Mouse: Fly:
UNC93B deficiency 164 UNC93B1 Mouse:
TLR3 deficiency 166 TLR3 Mouse:
DNA breakage associated syndromes and DNA epigenetic modification syndromes
DNA-breakage-associated syndromes
Disease Fact file Gene Animal models
Ataxia-telengiectasia 87 ATM
Nijmegen-breakage syndrome 88 NBS1
Ataxia-telangiectasia-like disorder 120 MRE11A Mouse:
DNA ligase deficiency
Disease Fact file Gene Animal models
DNA ligase I deficiency 131 LIG1 Mouse:
DNA ligase deficiency IV 118 LIG4 Mouse:
Bloom syndrome 89 BLM
Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF) 124 DNMT3B Mouse:
Defects of the classical complement cascade proteins
C1q deficiency
Disease Fact file Gene Animal models
C1q α-polypeptide deficiency 48 C1QA Mouse: Fly: C. elegans:
C1q β-polypeptide deficiency 49 C1QB Mouse: Fly: C. elegans:
C1q γ-polypeptide deficiency 50 C1QC Mouse: Fly: C. elegans:
C1r and C1s deficiency
Disease Fact file Gene Animal models
C1r deficiency 51 C1R Mouse: Fly: C. elegans:
C1s deficiency 52 C1S Fly: C. elegans:
C2 deficiency 90 C2
C3 deficiency 61 C3
C4 deficiency
Disease Fact file Gene Animal models
C4A deficiency 53 C4A Mouse: Fly: C. elegans:
C4B deficiency 54 C4B Mouse: Fly: C. elegans:
C5 deficiency 91 C5
C6 deficiency 92 C6
C7 deficiency 93 C7
C8 deficiency
Disease Fact file Gene Animal models
C8 α-polypeptide deficiency 55 C8A Fly: C. elegans:
C8 β-polypeptide deficiency 56 C8B Mouse: Fly: C. elegans:
C8 γ-polypeptide deficiency 57 C8G Mouse: Fly: C. elegans:
C9 deficiency 94 C9
Defects of the alternative complement pathway
Factor B deficiency 95 BF
Factor D deficiency 98 CFD
Factor H1 deficiency 101 CFH
Properdin factor C deficiency 100 CFP
Defects of complement regulatory proteins
Hereditary angioedema
Disease Fact file Gene Animal models
Hereditary angioedema 97 SERPING1
C4-binding protein deficiency
Disease Fact file Gene Animal models
C4 binding protein α deficiency 58 C4BPA Mouse: Fly: C. elegans:
C4 binding protein β deficiency 59 C4BPB Mouse: Fly: C. elegans:
Hereditary angioedema type III 160 F12 Mouse:
Decay-accelerating factor (CD55) deficiency 102 CD55
Factor I deficiency 99 CFI
MAC inhibitor (CD59) deficiency 103 CD59
Mannose-binding lectin deficiency
Disease Fact file Gene Animal models
Mannose-binding lectin deficiency 96 MBL2
Mannan-binding lectin - associated serine protease 2 deficiency 119 MASP2 Mouse:
Periodic fever syndromes
Familial mediterranean fever 140 MEFV Mouse:
Hyperimmunoglobulinemia D with periodic fever syndrome 141 MVK Mouse:
Tumor necrosis factor receptor-associated periodic syndrome 142 TNFRSF1A Mouse: Rat:
Cold autoinflammatory syndrome
Disease Fact file Gene Animal models
Familial cold urticaria and Muckle-Wells syndrome 143 CIAS1 Mouse:
Chronic infantile neurological cutaneous and articular syndrome 144 CIAS1 Mouse:
Granulomatous sinovitis with uveitis and cranial neuropathies 145 CARD15 Mouse: Rat:
Crohn's disease 146 CARD15 Mouse: Rat: