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Article

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

JAMA dermatology - 1 Apr 2015

Günther Claudia, Berndt Nicole, Wolf Christine, Lee-Kirsch Min Ae

Abstract excerpt

IMPORTANCE: Familial chilblain lupus is a rare, autosomal dominant form of lupus erythematosus characterized by cold-induced inflammatory lesions at acral locations presenting in early childhood. Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1). OBSERVATIONS: We report on a family with dominant chilblain lupus segregating a novel TREX1 mutation (c.585C>G; H195Q) within...

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Source

Identifiers

PMID: 25517357
DOI: 10.1001/jamadermatol.2014.3438

Genes

TREX1

Variants

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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.

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