Disorder (year of definition of molecular basis)
|
Chromosomal location
|
Gene
|
Diagnostic tests other than direct mutation analysis
|
X linked severe combined immunodeficiency (1993) | Xq13 | Common γ chain (γc) | γc expression by FACS analysis |
Adenosine deaminase (ADA) deficiency (1983) | 20q12–13 | Adenosine deaminase | Red cell ADA levels and metabolites |
Purine nucleoside phosphorylase (PNP) deficiency (1987) | 14q11 | Purine nucleoside phosphorylase | Red cell PNP levels and metabolites |
Recombinase activating gene (RAG 1&2) deficiency (1996), Omenn's syndrome (1998) | 11p13 | RAG1 and RAG2 | |
T cell receptor deficiencies (1987) | 11q23 | CD3γ/CD3ε | |
Zap70 deficiency (1994) | 2q12 | ZAP-70 | ZAP-70 expression |
JAK3 deficiency (1995) | 19p13 | JAK3 | JAK3 expression/signalling |
IL-7 receptor deficiency (1998) | 5p13 | IL-7 receptor α | IL-7 receptor α expression |
MHC class II deficiency | | | |
(1993) | 16p13 | CIITA | HLA-DR expression |
(1998) | 19p12 | RFX-B | |
(1995) | 1q21 | RFX5 | |
(1997) | 13q13 | RFXAP | |