IDR Fact files

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z α γ κ λ μ
FF Disease
17 AID deficiency
162 ALPS type III
10 Adenosine deaminase deficiency
68 Antibody deficiency with normal immunoglobulin levels
5 Artemis deficiency
120 Ataxia-telangiectasia-like disorder
87 Ataxia-telengiectasia
109 Autoimmune lymphoproliferative syndrome type II
110 Autoimmune lymphoproliferative syndrome type IIB
37 Autoimmune lymphoproliferative syndrome, type 1B
36 Autoimmune lymphoproliferative syndrome, type Ia
72 Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
121 Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
24 BLNK deficiency
134 Barth syndrome
89 Bloom syndrome
48 C1q α-polypeptide deficiency
49 C1q β-polypeptide deficiency
50 C1q γ-polypeptide deficiency
51 C1r deficiency
52 C1s deficiency
90 C2 deficiency
61 C3 deficiency
58 C4 binding protein α deficiency
59 C4 binding protein β deficiency
53 C4A deficiency
54 C4B deficiency
91 C5 deficiency
92 C6 deficiency
93 C7 deficiency
55 C8 α-polypeptide deficiency
56 C8 β-polypeptide deficiency
57 C8 γ-polypeptide deficiency
94 C9 deficiency
150 CD19 deficiency
149 CD3Zeta deficiency
111 CD3delta deficiency
21 CD3γ deficiency
20 CD3ε deficiency
18 CD40 deficiency
6 CD45 deficiency
132 CD64 deficiency
64 CD8α deficiency
12 CIITA, MHCII transactivating protein deficiency
77 Cartilage-hair hypoplasia
152 Cernunnos deficiency
79 Chediak-Higashi syndrome
144 Chronic infantile neurological cutaneous and articular syndrome
76 Chronic mucocutaneous candidiasis
66 Common variable immunodeficiency of unknown origin
146 Crohn's disease
86 Cyclic neutropenia
131 DNA ligase I deficiency
118 DNA ligase deficiency IV
102 Decay-accelerating factor (CD55) deficiency
74 DiGeorge-anomaly
114 Epidermodysplasia verruciformis type 1
115 Epidermodysplasia verruciformis type 2
95 Factor B deficiency
98 Factor D deficiency
101 Factor H1 deficiency
99 Factor I deficiency
143 Familial cold urticaria and Muckle-Wells syndrome
104 Familial haemophagocytic lymphohistiocytosis type 1
105 Familial haemophagocytic lymphohistiocytosis type 2
155 Familial haemophagocytic lymphohistiocytosis type 4
126 Familial hemophagocytic lymphohistiocytosis 3
140 Familial mediterranean fever
129 GFI1 deficiency
81 Glucose 6-phosphate dehydrogenase deficiency
83 Glycogen storage disease Ib
145 Granulomatous sinovitis with uveitis and cranial neuropathies
80 Griscelli syndrome, type 1
122 Griscelli syndrome, type 2
156 Griscelli syndrome, type 3
158 Hepatic veno-oclussive disease with immunodeficiency syndrome
97 Hereditary angioedema
160 Hereditary angioedema type III
108 Hermansky-Pudlak syndrome 2
113 Hoyeraal-Hreidarsson syndrome/Dyskeratosis congenita
75 Hyper-IgE recurrent infection syndrome
141 Hyperimmunoglobulinemia D with periodic fever syndrome
116 ICOS deficiency
44 IFNγ1-receptor deficiency
45 IFNγ2-receptor deficiency
63 IL-2 receptor α-chain deficiency (CD25 deficiency)
117 IRAK4 deficiency
67 IgA deficiency
35 IgG subclass deficiency with or without IgA deficiency
25 Igα deficiency
159 Igβ deficiency
124 Immunodeficiency, centromere instability and facial abnormalities syndrome (ICF)
106 Interleukin 7 receptor deficiency
46 Interleukin-12 (IL-12) p40 deficiency
47 Interleukin-12 receptor β1 deficiency
9 JAK3 deficiency
123 LAD with RAC2 deficiency
139 LAD3 deficiency
42 Leukocyte adhesion deficiency I
43 Leukocyte adhesion deficiency II
103 MAC inhibitor (CD59) deficiency
119 Mannan-binding lectin - associated serine protease 2 deficiency
96 Mannose-binding lectin deficiency
82 Myeloperoxidase deficiency
135 Natural killer deficiency
133 Netherton syndrome
112 Neutrophil-specific granule deficiency
88 Nijmegen-breakage syndrome
151 Non-Bruton type autosomal dominant agammaglobulinemia
4 Omenn syndrome
157 Osteopetrosis, AR
154 Papillon-Lefevre syndrome
30 Partial γ3 isotype deficiency
100 Properdin factor C deficiency
11 Purine nucleoside phosphorylase deficiency
2 RAG1 deficiency
3 RAG2 deficiency
13 RFX-5, MHCII promoter X box regulatory factor 5 deficiency
15 RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency
14 Regulatory factor X-associated protein deficiency
1 Reticular dysgenesis
70 STAT1 deficiency
167 STAT3 deficiency
125 STAT5b deficiency
148 Schimke immuno-osseous dysplasia
138 Selective deficiency in Ig class-switch recombination
85 Severe congenital neutropenias, including Kostmann syndrome
84 Shwachman syndrome
128 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
107 TAP1 deficiency
60 TAP2 deficiency
166 TLR3 deficiency
147 TMEM142 deficiency
153 TNFRSF13B deficiency
136 Tapasin deficiency
130 Transcobalamin II deficiency
69 Transient hypogammaglobulinemia of infancy
142 Tumor necrosis factor receptor-associated periodic syndrome
163 Tyk2 deficiency
164 UNC93B deficiency
127 UNG deficiency
7 WHIM syndrome
71 Wiskott-Aldrich syndrome and X-linked thrombocytopenia
8 X-linked SCID(γc-chain deficiency)
22 X-linked agammaglobulinemia
38 X-linked chronic granulomatous disease
16 X-linked hyper-IgM syndrome (CD40L deficiency)
19 X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)
23 X-linked hypogammaglobulinemia with growth hormone deficiency
78 X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX)
73 X-linked lymphoproliferative disease (Duncan disease)
165 X-linked lymphoproliferative syndrome 2
62 ZAP-70 deficiency
32 α1 isotype deficiency
33 α2 isotype deficiency
28 γ1 isotype deficiency
29 γ2 isotype deficiency
31 γ4 isotype deficiency
65 κ light-chain deficiency
27 λ5 surrogate light-chain deficiency
26 μ heavy-chain deficiency