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STAT1 gain‐of‐function and chronic demodicosis
Author(s) -
MolhoPessach Vered,
Meltser Ar,
Kamshov Adaia,
Ramot Yuval,
Zlotogorski Abraham
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14011
Subject(s) - chronic mucocutaneous candidiasis , demodicosis , medicine , papulopustular , dermatology , demodex , primary immunodeficiency , blepharitis , immunology , mutation , stat1 , immune system , pathology , genetics , biology , disease , mite , gene , rosacea , botany , interferon , acne
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.