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Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa s...

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Detalles Bibliográficos
Autores principales: Eren Akarcan, Sanem, Ulusoy Severcan, Ezgi, Edeer Karaca, Neslihan, Isik, Esra, Aksu, Guzide, Migaud, Mélanie, Evin Gurkan, Ferda, Azarsiz, Elif, Puel, Anne, Casanova, Jean-Laurent, Kutukculer, Necil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702932/
https://www.ncbi.nlm.nih.gov/pubmed/29259832
http://dx.doi.org/10.1155/2017/2846928