Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association

PURPOSE: Heterozygous missense STAT1 mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of STAT1 with the clinical symptoms of CMC, recurrent pneumonia, and pers...

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Detalles Bibliográficos
Autores principales: Martinot, Martin, Korganow, Anne Sophie, Wald, Mathieu, Second, Julie, Birckel, Elodie, Mahé, Antoine, Souply, Laurent, Mohseni-Zadeh, Mahsa, Droy, Laure, Tarabeux, Julien, Okada, Satoshi, Migaud, Mélanie, Puel, Anne, Guffroy, Aurelien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721043/
https://www.ncbi.nlm.nih.gov/pubmed/34987506
http://dx.doi.org/10.3389/fimmu.2021.760019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721043/
https://www.ncbi.nlm.nih.gov/pubmed/34987506
http://dx.doi.org/10.3389/fimmu.2021.760019

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