Disease | Prevalence |
X-linked agammaglobulinemia (XLA) | 1/200,000 |
X-linked lymphoproliferative syndrome | <1/1,000,000 live births in males |
X-linked immunodeficiency with hyper-IgM | < 1/1,000,000 live births in males |
X-Linked Severe Combined Immunodeficiency | 1/50,000 to 1/100,000 |
JAK3-deficient Severe Combined Immunodeficiency (autosomal recessive T-B+ SCID) | <1/500,000 live births |
Adenosine Deaminase Deficiency | 1/2 x 100 to 1 x 100 births |
B cell negative SCID, Omenn Syndrome | ~ 1/100,000 |
Ataxia-Telangiectasia | ~ 1/100,000 |
Leukocyte Adhesion Deficiency Type I | 1/100,000 |
X-linked chronic granulomatous disease (X-CGD) | 1/250,000 |
Autosomal CGD - p22phox deficiency | < 1/2,000,000 |
Autosomal CGD - p47phox deficiency | ~ 1/500,000 |
Autosomal CGD – p67phox deficiency | <1/2,000,000 |
Defect in CIITA (MHC class II deficiency) | <1/2,000,000 |
Defect in RFXANK (MHC class II deficiency) | <1/2,000,000 |
Defect in RFX5 (MHC class II deficiency) | <1/2,000,000 |
Defect in RFXAP (MHC class II deficiency) | <1/2,000,000 |
IFN gama1-receptor deficiency | <1/2,000,000 |
IFN gama2-receptor deficiency | <1/2,000,000 |
Interleukin12- p40 deficiency | <1/2,000,000 |
Interleukin12- receptor beta1 deficiency | <1/2,000,000 |