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Article

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Frontiers in immunology - 1 Jan 2021

Zhang Wenjing, Chen Xuemei, Gao Guodong, Xing Shubin, Zhou Lina, Tang Xuemei, Zhao Xiaodong, An Yunfei

Abstract excerpt

Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To date, no comprehensive overview comparing GOF with LOF in early-onset immunodeficiency has been compiled. Objective: To collect and systematically review all studies reporting STAT1 GOF and LOF cases, and to describe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33777053
DOI: 10.3389/fimmu.2021.654406
PMCID: PMC7991083

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.PMID 33777053Read ↗

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