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Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints

STAT1 gain-of-function (GOF) is a primary immunodeficiency typically characterized by chronic mucocutaneous candidiasis (CMC), recurrent respiratory infections, and autoimmunity. Less commonly, also immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX)-like syndromes with CMC, and combi...

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Detalles Bibliográficos
Autores principales: Giovannozzi, Simone, Demeulemeester, Jonas, Schrijvers, Rik, Gijsbers, Rik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7925617/
https://www.ncbi.nlm.nih.gov/pubmed/33679782
http://dx.doi.org/10.3389/fimmu.2021.632997