What are the sexual predilections 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

About 50% of SCID cases are X-linked (ie, occurring only in males). Only about one third of males with common γ chain mutations have a positive family history, which indicates that de novo mutations account for a significant percentage of SCID cases. The remaining SCID cases are caused by various autosomal recessive mutations that affect males and females equally. Seek a family history of consanguinity or of an inbred population. Homologous mutations are more common in these circumstances. Thus, the overall male-to-female ratio is 3:1.


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