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Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation.

J Eur Acad Dermatol Venereol. 2020 Jan 28;:

Authors: Sáez-de-Ocariz M, Suárez-Gutiérrez M, Migaud M, O Farrill-Romanillos P, Casanova JL, Segura-Mendez NH, Orozco-Covarrubias L, Espinosa-Padilla SE, Puel A, Blancas-Galicia L

Abstract
Rosacea is a chronic relapsing inflammatory skin and ocular disease, with typical onset between the ages of 30 and 60 years, and several associated comorbidities (1, 2). It has been linked to the dysregulation of the innate and adaptive immune responses(3). To date, a genetic cause for early-onset rosacea has only been described in two unrelated families, with a gain-of-function (GOF) mutation in STAT1 (4, 5). Here we report eight family members affected with STAT1-GOF; six of them with rosacea with four of the latter showed early onset.

PMID: 31991004 [PubMed - as supplied by publisher]

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