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

作者信息

Sáez-de-Ocariz M, Suárez-Gutiérrez M, Migaud M, O Farrill-Romanillos P, Casanova J L, Segura-Mendez N H, Orozco-Covarrubias L, Espinosa-Padilla S E, Puel A, Blancas-Galicia L

机构信息

Dermatology Department, National Institute of Pediatrics, Mexico City, Mexico.

Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.

出版信息

J Eur Acad Dermatol Venereol. 2020 Jun;34(6):e265-e267. doi: 10.1111/jdv.16241. Epub 2020 Feb 27.

DOI:10.1111/jdv.16241
PMID:31991004
Abstract
摘要

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A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.
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