T Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
January 2022
Studysummary This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
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The document discussed the nude phenotype, a severe form of combined immunodeficiency (SCID) characterized by T cell immunodeficiency, congenital alopecia, and nail dystrophy. This condition was first identified in humans in 1996, following its initial description in mice in 1966. The genetic mutation responsible was identified in 1994 as a mutation in the Foxn1 gene. The condition is extremely rare, with an incidence of less than 1 in 1,000,000, and leads to severe infections early in life due to profound T cell impairment. Patients also exhibit skin and hair abnormalities.
