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Article

Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.

Clinical genetics - 1 Nov 2014

Diamond J

Abstract excerpt

Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.

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Source

Identifiers

PMID: 25080300
DOI: 10.1111/cge.12471

Genes

IFIH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.PMID 25080300Read ↗

Aicardi-Goutières Syndrome Is Caused by IFIH1 MutationsSemantic proximity Read ↗

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.Semantic proximity Read ↗

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.Semantic proximity Read ↗

Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1Semantic proximity Read ↗

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Semantic proximity Read ↗

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

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.Semantic proximity Read ↗

Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA DeficiencySemantic proximity Read ↗

<i>IFIH1</i>loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseasesSemantic proximity Read ↗

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.Semantic proximity Read ↗

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.Semantic proximity Read ↗

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel diseaseSemantic proximity Read ↗

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