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STAT1 gain-of-function and chronic demodicosis.

Pediatr Dermatol. 2019 Oct 21;:

Authors: Molho-Pessach V, Meltser A, Kamshov A, Ramot Y, Zlotogorski A

Heterozygous STAT1 gain-of-function (GOF) mutations result in a combined form of immunodeficiency which is the most common genetic cause of chronic mucocutaneous candidiasis (CMC). We present a pedigree with a GOF mutation in STAT1, manifesting with chronic demodicosis in the form of a facial papulopustular eruption, blepharitis, and chalazion. So far, demodicosis has been described in only one family with STAT1-GOF mutation. We suggest that chronic demodicosis is an under-recognized feature of the immune dysregulation disorder caused by STAT1 gain-of-function mutations.

PMID: 31637766 [PubMed - as supplied by publisher]

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