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Article

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

Frontiers in immunology - 1 Jan 2021

Giovannozzi Simone, Demeulemeester Jonas, Schrijvers Rik, Gijsbers Rik

Abstract excerpt

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 combined immunodeficiency without CMC have been described. Recently, our group and others have shown that different...

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Cell Line
Gain of Function Mutation
Gene Expression Profiling
Interferon-gamma
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Binding

STAT1 Transcription Factor

Transcriptional Activation

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Identifiers

PMID: 33679782
DOI: 10.3389/fimmu.2021.632997
PMCID: PMC7925617

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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