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Article

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

The British journal of dermatology - 1 Dec 2015

Bursztejn A-C, Briggs T A, del Toro Duany Y, Anderson B H, O'Sullivan J, Williams S G, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice G I, Hur S, Crow Y J

Abstract excerpt

Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to Aicardi-Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I...

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Source

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Identifiers

PMID: 26284909
DOI: 10.1111/bjd.14073
PMCID: PMC4745891

Genes

IFIH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.PMID 26284909Read ↗

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

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

Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.Semantic proximity Read ↗

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.Semantic proximity Read ↗

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

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

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Semantic proximity Read ↗

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Semantic proximity Read ↗

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

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