Classification of Immunodeficiencies

Combined B and T cell immunodeficiencies
T-B- Severe combined immunodeficiency (SCID)
Disease Fact file OMIM
Reticular dysgenesis 1 OMIM:267500
RAG1 deficiency 2 OMIM:601457, OMIM:179615
RAG2 deficiency 3 OMIM:601457, OMIM:179616
Omenn syndrome 4 OMIM:603554
Artemis deficiency 5 OMIM:602450, OMIM:605988
Disease Fact file OMIM
X-linked SCID(γc-chain deficiency) 8 OMIM:300400, OMIM:308380
JAK3 deficiency 9 OMIM:600802, OMIM:600173
Interleukin 7 receptor deficiency 106 OMIM:600802, OMIM:146661
CD45 deficiency 6 OMIM:202500, OMIM:151460
CD3delta deficiency 111 OMIM:600802, OMIM:186790
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 128 OMIM:601705, OMIM:600838
Deficiencies of purine metabolism
Disease Fact file OMIM
Adenosine deaminase deficiency 10 OMIM:202500, OMIM:102700
Purine nucleoside phosphorylase deficiency 11 OMIM:202500, OMIM:164050
Major histocompatibility complex class II deficiency
Disease Fact file OMIM
CIITA, MHCII transactivating protein deficiency 12 OMIM:209920, OMIM:600005
RFX-5, MHCII promoter X box regulatory factor 5 deficiency 13 OMIM:209920, OMIM:601863
Regulatory factor X-associated protein deficiency 14 OMIM:209920, OMIM:601861
RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency 15 OMIM:209920, OMIM:603200
Major histocompatibility complex class I deficiency
Disease Fact file OMIM
TAP2 deficiency 60 OMIM:604571, OMIM:170261
TAP1 deficiency 107 OMIM:604571, OMIM:170260
Tapasin deficiency 136 OMIM:604571, OMIM:601962
Hyper-IgM syndrome
Disease Fact file OMIM
X-linked hyper-IgM syndrome (CD40L deficiency) 16 OMIM:308230, OMIM:300386
CD40 deficiency 18 OMIM:606843, OMIM:109535
CD3 deficiency
Disease Fact file OMIM
CD3ε deficiency 20 OMIM:186830
CD3γ deficiency 21 OMIM:186740
CD3Zeta deficiency 149 OMIM:186780
Disease Fact file OMIM
ZAP-70 deficiency 62 OMIM:600802, OMIM:176947
IL-2 receptor α-chain deficiency (CD25 deficiency) 63 OMIM:606367, OMIM:147730
CD8α deficiency 64 OMIM:186910
p56 Lck deficiency 137 OMIM:153390
Schimke immuno-osseous dysplasia 148 OMIM:606622, OMIM:242900
Cernunnos deficiency 152 OMIM:
TMEM142 deficiency 147 OMIM:610277
Deficiencies predominantly affecting antibody production
Disease Fact file OMIM
X-linked agammaglobulinemia 22 OMIM:300310, OMIM:300300
X-linked hypogammaglobulinemia with growth hormone deficiency 23 OMIM:307200
BLNK deficiency 24 OMIM:601495, OMIM:604515
Igα deficiency 25 OMIM:601495, OMIM:112205
μ heavy-chain deficiency 26 OMIM:601495 , OMIM:147020
λ5 surrogate light-chain deficiency 27 OMIM:146770
Non-Bruton type autosomal dominant agammaglobulinemia 151 OMIM:601495 , OMIM:608360, OMIM:601495
Igβ deficiency 159 OMIM:147245
Light-chain deficiency
Disease Fact file OMIM
κ light-chain deficiency 65 OMIM:147200
Selective deficiency of IgG subclass, IgE and/or IgA class or subclass
Disease Fact file OMIM
γ1 isotype deficiency 28 OMIM:147100
γ2 isotype deficiency 29 OMIM:147110
Partial γ3 isotype deficiency 30 OMIM:147120
γ4 isotype deficiency 31 OMIM:147130
α1 isotype deficiency 32 OMIM:146900
α2 isotype deficiency 33 OMIM:147000
ε isotype deficiency 34 OMIM:147180
IgG subclass deficiency with or without IgA deficiency 35
IgA deficiency 67 OMIM:137100
Common variable immunodeficiency
Disease Fact file OMIM
Common variable immunodeficiency of unknown origin 66 OMIM:240500
ICOS deficiency 116 OMIM:607594, OMIM:240500, OMIM:604558
TNFRSF13B deficiency 153 OMIM:604907, OMIM:240500, OMIM:609529
Other antibody deficiencies
Disease Fact file OMIM
Antibody deficiency with normal immunoglobulin levels 68 OMIM:240500
Transient hypogammaglobulinemia of infancy 69 OMIM:240500
CD19 deficiency 150 OMIM:107265
Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Disease Fact file OMIM
AID deficiency 17 OMIM:605258, OMIM:605257
UNG deficiency 127 OMIM:608106, OMIM:191525
Selective deficiency in Ig class-switch recombination 138 OMIM:608184
Defects in lymphocyte apoptosis
Autoimmune lymphoproliferative syndrome
Disease Fact file OMIM
Autoimmune lymphoproliferative syndrome, type Ia 36 OMIM:601859, OMIM:601859, OMIM:134637, OMIM:601762
Autoimmune lymphoproliferative syndrome, type 1B 37 OMIM:601859, OMIM:134638
Autoimmune lymphoproliferative syndrome type II 109 OMIM:603909, OMIM:601859, OMIM:601762, OMIM:134637, OMIM:605027
Autoimmune lymphoproliferative syndrome type IIB 110 OMIM:601859, OMIM:607271, OMIM:601763
ALPS type III 162 OMIM:164790, OMIM:601859, OMIM:603909
Other well-defined immunodeficiency syndromes
Wiskott-Aldrich syndrome and X-linked thrombocytopenia71 OMIM:301000, OMIM:313900, OMIM:300392
Autoimmune disorders
Disease Fact file OMIM
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy 72 OMIM:240300, OMIM:607358
X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX) 78 OMIM:304790, OMIM:300292
X-linked lymphoproliferative disease (Duncan disease)73 OMIM:308240, OMIM:300490
DiGeorge-anomaly74 OMIM:188400, OMIM:192430, OMIM:602054
Hyper-IgE recurrent infection syndrome75 OMIM:147060, OMIM:243700
Chronic mucocutaneous candidiasis76 OMIM:606415, OMIM:114580, OMIM:212050
Cartilage-hair hypoplasia77 OMIM:250250, OMIM:157660
Epidermodysplasia verruciformis
Disease Fact file OMIM
Epidermodysplasia verruciformis type 1 114 OMIM:226400, OMIM:605828
Epidermodysplasia verruciformis type 2 115 OMIM:226400, OMIM:605829
Netherton syndrome133 OMIM:256500, OMIM:605010
Natural killer deficiency135 OMIM:146740
Transcobalamin II deficiency130 OMIM:275350
Osteopetrosis, AR157 OMIM:604592, OMIM:259700
Hepatic veno-oclussive disease with immunodeficiency syndrome158 OMIM:604457, OMIM:235550
Tyk2 deficiency163 OMIM:176941, OMIM:147060, OMIM:243700
X-linked lymphoproliferative syndrome 2165 OMIM:300635, OMIM:308240, OMIM:300079
STAT3 deficiency167 OMIM:102582, OMIM:147060, OMIM:243700
Defects of phagocyte function
Chronic granulomatous disease
Disease Fact file OMIM
X-linked chronic granulomatous disease 38 OMIM:306400, OMIM:300481
p22phox deficiency 39 OMIM:233690, OMIM:608508
p47phox deficiency 40 OMIM:233700, OMIM:608512
p67phox deficiency 41 OMIM:233710, OMIM:608515
Leukocyte adhesion defects
Disease Fact file OMIM
Leukocyte adhesion deficiency I 42 OMIM:116920, OMIM:600065
Leukocyte adhesion deficiency II 43 OMIM:266265, OMIM:605881
LAD3 deficiency 139 OMIM:116920, OMIM:605577
LAD with RAC2 deficiency 123 OMIM:608203, OMIM:602049
Chediak-Higashi syndrome79 OMIM:214500, OMIM:606897
Griscelli syndrome
Disease Fact file OMIM
Griscelli syndrome, type 1 80 OMIM:214450, OMIM:160777
Griscelli syndrome, type 2 122 OMIM:607624, OMIM:604228, OMIM:214450, OMIM:603868
Griscelli syndrome, type 3 156 OMIM:606526, OMIM:609227
Glucose 6-phosphate dehydrogenase deficiency81 OMIM:305900
Myeloperoxidase deficiency82 OMIM:254600, OMIM:606989
Glycogen storage disease Ib83 OMIM:232200, OMIM:232220, OMIM:232240, OMIM:602671
Shwachman syndrome84 OMIM:260400, OMIM:607444
Disease Fact file OMIM
Severe congenital neutropenias, including Kostmann syndrome 85 OMIM:202700, OMIM:130130, OMIM:138971, OMIM:600871
Cyclic neutropenia 86 OMIM:162800, OMIM:130130
GFI1 deficiency 129 OMIM:202700, OMIM:600871, OMIM:130130
Familial haemophagocytic lymphohistiocytosis
Disease Fact file OMIM
Familial haemophagocytic lymphohistiocytosis type 1 104 OMIM:267700, OMIM:603552
Familial haemophagocytic lymphohistiocytosis type 2 105 OMIM:267700, OMIM:170280
Familial hemophagocytic lymphohistiocytosis 3 126 OMIM:608898, OMIM:608897
Familial haemophagocytic lymphohistiocytosis type 4 155 OMIM:267700, OMIM:603552, OMIM:605014
Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita113 OMIM:300240, OMIM:305000, OMIM:300126
CD64 deficiency132 OMIM:146760
Hermansky-Pudlak syndrome 2108 OMIM:608233, OMIM:603401
Barth syndrome134 OMIM:302060, OMIM:300069, OMIM:300394
Neutrophil-specific granule deficiency112 OMIM:245480, OMIM:600749
Papillon-Lefevre syndrome154 OMIM:602365, OMIM:245000
Disorders of pigmentation and immunodeficiency
Disease Fact file OMIM
p14 deficiency 161 OMIM:610798, OMIM:610389
Defects of innate immune system, receptors and signaling components
Interferon-γ (IFNγ) receptor deficiency
Disease Fact file OMIM
IFNγ1-receptor deficiency 44 OMIM:209950, OMIM:107470, OMIM:600263
IFNγ2-receptor deficiency 45 OMIM:209950, OMIM:147569
Interleukin-12 receptor β1 deficiency47 OMIM:209950, OMIM:601604
Interleukin-12 (IL-12) p40 deficiency46 OMIM:209950, OMIM:161561
STAT1 deficiency70 OMIM:600555, OMIM:209950
STAT5b deficiency125 OMIM:245590, OMIM:604260
IRAK4 deficiency117 OMIM:607676, OMIM:606883
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency121 OMIM:129490, OMIM:164008, OMIM:300291
WHIM syndrome7 OMIM:193670, OMIM:162643
X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)19 OMIM:300291, OMIM:300248
UNC93B deficiency164 OMIM:610551, OMIM:608204
TLR3 deficiency166 OMIM:603029, OMIM:603029
DNA breakage associated syndromes and DNA epigenetic modification syndromes
DNA-breakage-associated syndromes
Disease Fact file OMIM
Ataxia-telengiectasia 87 OMIM:208900, OMIM:607585
Nijmegen-breakage syndrome 88 OMIM:251260, OMIM:602667
Ataxia-telangiectasia-like disorder 120 OMIM:604391, OMIM:600814
DNA ligase deficiency
Disease Fact file OMIM
DNA ligase I deficiency 131 OMIM:126391
DNA ligase deficiency IV 118 OMIM:606593, OMIM:601837
Bloom syndrome89 OMIM:210900, OMIM:604610
Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)124 OMIM:242860, OMIM:602900
Defects of the classical complement cascade proteins
C1q deficiency
Disease Fact file OMIM
C1q α-polypeptide deficiency 48 OMIM:120550
C1q β-polypeptide deficiency 49 OMIM:120570
C1q γ-polypeptide deficiency 50 OMIM:120575
C1r and C1s deficiency
Disease Fact file OMIM
C1r deficiency 51 OMIM:216950
C1s deficiency 52 OMIM:120580
C2 deficiency90 OMIM:217000
C3 deficiency61 OMIM:120700
C4 deficiency
Disease Fact file OMIM
C4A deficiency 53 OMIM:120810
C4B deficiency 54 OMIM:120820
C5 deficiency91 OMIM:120900
C6 deficiency92 OMIM:217050
C7 deficiency93 OMIM:217070
C8 deficiency
Disease Fact file OMIM
C8 α-polypeptide deficiency 55 OMIM:120950
C8 β-polypeptide deficiency 56 OMIM:120960
C8 γ-polypeptide deficiency 57 OMIM:120930
C9 deficiency94 OMIM:120940
Defects of the alternative complement pathway
Factor B deficiency95 OMIM:138470
Factor D deficiency98 OMIM:134350
Factor H1 deficiency101 OMIM:134370
Properdin factor C deficiency100 OMIM:312060, OMIM:300383
Defects of complement regulatory proteins
Hereditary angioedema
Disease Fact file OMIM
Hereditary angioedema 97 OMIM:106100, OMIM:606860
C4-binding protein deficiency
Disease Fact file OMIM
C4 binding protein α deficiency 58 OMIM:120830
C4 binding protein β deficiency 59 OMIM:120831
Hereditary angioedema type III 160 OMIM:610618, OMIM:106100
Decay-accelerating factor (CD55) deficiency102 OMIM:125240
Factor I deficiency99 OMIM:217030
MAC inhibitor (CD59) deficiency103 OMIM:107271
Mannose-binding lectin deficiency
Disease Fact file OMIM
Mannose-binding lectin deficiency 96 OMIM:154545
Mannan-binding lectin - associated serine protease 2 deficiency 119 OMIM:605102
Periodic fever syndromes
Familial mediterranean fever140 OMIM:608107
Hyperimmunoglobulinemia D with periodic fever syndrome141 OMIM:260920, OMIM:251170
Tumor necrosis factor receptor-associated periodic syndrome142 OMIM:142680, OMIM:191190
Cold autoinflammatory syndrome
Disease Fact file OMIM
Familial cold urticaria and Muckle-Wells syndrome 143 OMIM:120100, OMIM:191900, OMIM:606416
Chronic infantile neurological cutaneous and articular syndrome 144 OMIM:607115, OMIM:606416
Granulomatous sinovitis with uveitis and cranial neuropathies145 OMIM:186580, OMIM:605956
Crohn's disease146 OMIM:266600, OMIM:605956