Classification of Immunodeficiencies
| Antibody
deficiencies |
| X-linked agammaglobulinemia |
OMIM
|
| Non X-linked hyper IgM syndrome |
OMIM
|
| Ig heavy-chain gene deletions |
OMIM
|
| κ chain deficiency |
OMIM
|
Selective deficiencies of IgG or IgA subclasses
or IgE class:
γ1 (IGHG1); γ2 (IGHG2); partial γ3 (IGHG3); γ4 (IGHG4);
α1 (IGHA1); α2 (IGHA2); ε (IGHE) |
OMIM
γ1,
γ2,
γ3,
γ4,
α1,
α2,
ε
|
| Antibody deficiency with normal Igs |
|
| Common variable immunodeficiency |
OMIM
|
| IgA deficiency |
OMIM
|
| Transient hypogammaglobulinemia of infancy
|
|
| Autosomal recessive agammaglobulinemia
|
OMIM
|
| T
cell deficiencies |
| Purine nucleoside phosphorylase (PNP)
deficiency |
OMIM
|
| CD3γ deficiency |
OMIM
|
| CD3ε deficiency |
OMIM
|
| ZAP-70 deficiency |
OMIM
|
| Combined
Immunodeficiencies |
| Severe
combined immunodeficiencies (SCIDs) |
| T-B+SCID
|
| X-linked gamma c (γc)
chain deficiency |
OMIM
|
| Autosomal recessive Jak3 deficiency
|
OMIM
|
| T-B-SCID
|
| RAG 1 deficiency |
OMIM
|
| RAG 2 deficiency |
OMIM
|
| Adenosine deaminase (ADA) deficiency |
OMIM
|
| Reticular dysgenesis |
OMIM
|
| Other
SCIDs |
| X-linked hyper IgM syndrome |
OMIM
|
| CIITA, MHCII transactivating protein deficiency
|
OMIM
|
| RFX-5, MHCII promoter X box regulatory
factor 5 deficiency |
OMIM
|
| RFXAP, Regulatory factor X-associated
protein deficiency |
OMIM
|
| TAP-2 deficiency |
OMIM
|
| Other
well-defined immunodeficiency syndromes |
| Wiskott-Aldrich syndrome |
OMIM
|
| Ataxia-telangiectasia |
OMIM
|
| DiGeorge syndrome |
OMIM
|
| Phagocytic
Immunodeficiencies |
| Severe congenital neutropenia |
OMIM
|
| Cyclic neutropenia |
OMIM
|
Leukocyte adhesion defect 1 [deficiency
of
beta chain (CD18) of LFA-1, Mac 1, p150,50] |
OMIM
|
Leukocyte adhesion defect 2 (failure to
convert GDP mannose to fucose) |
OMIM
|
| Chediak-Higashi syndrome |
OMIM
|
| Specific granule deficiency |
OMIM
|
| Schwachman syndrome |
OMIM
|
X-linked chronic granulomatous disease
(CGD)
(cyt b 91kD) |
OMIM
|
| Autosomal recessive CGD deficiency of
p22 phox |
OMIM
|
| Autosomal recessive CGD deficiency of
p47 phox |
OMIM
|
| Autosomal recessive CGD deficiency of
p67 phox |
OMIM
|
| Neutrophil G6PD deficiency |
OMIM
|
| Myeloperoxidase deficiency |
OMIM
|
| IFN-γ
receptor deficiency |
OMIM
|
|