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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

 


Last modified by Jouni Väliaho

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