In:
Pediatric Dermatology, Wiley, Vol. 37, No. 1 ( 2020-01), p. 153-155
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0736-8046
,
1525-1470
Language:
English
Publisher:
Wiley
Publication Date:
2020
detail.hit.zdb_id:
2020833-9