What is the US prevalence of severe combined immunodeficiency (SCID)?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Answer

The incidence was previously reported at approximately 1 in 100,000, but improved early identification of affected subjects revealed that the true incidence is higher than previously believed (closer to 1 case per 50,000-75,000 births). To the author’s knowledge, no population surveys have been performed. However, interest has been garnered in implementing screening to identify affected newborns. [33]

Approximately 50% of all SCID cases are X-linked (ie, mutation of the common γ chain); the remaining 50% are various forms of autosomal recessive SCID. Approximately 25% of the patients with an autosomal recessive SCID are JAK3-deficient, and 40% are ADA-deficient. The other disorders make up the remaining 35% of autosomal recessive patients.


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