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Article

Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.

American journal of medical genetics. Part A - 1 Oct 2021

Lu Meiping, Zhu Kun, Zheng Qi, Ma Xiaohui, Zou Lixia

Abstract excerpt

Interferon-induced with helicase C domain 1 (IFIH1) is a cytosolic sensor of dsRNA that induces an anti-viral Type I interferon (IFN) state. A gain-of-function mutation in IFIH1 can cause increased Type I IFN activity and is clinically associated with Aicardi-Goutières syndrome (AGS). AGS is a multisystem disease, characterized as an early-onset progressive encephalopathy with basal ganglia calcification and...

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Identifiers

PMID: 34189822
DOI: 10.1002/ajmg.a.62397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.PMID 34189822Read ↗

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.Semantic proximity Read ↗

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Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Semantic proximity Read ↗

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