Prevalence of Immunodeficiencies
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 |
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