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

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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Bibliographic Details
Main Authors: Simone Giovannozzi, Jonas Demeulemeester, Rik Schrijvers, Rik Gijsbers
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Immunology
Subjects:
STAT1
gain of function
mRNA sequencing
transcriptomic analysis
hypermorphic mutation
interferon gamma
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.632997/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2021.632997/full

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