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Article

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

Dermatology (Basel, Switzerland) - 1 Jan 2009

Günther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch M A

Abstract excerpt

Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous...

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Source

Identifiers

PMID: 19478477
DOI: 10.1159/000222430

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19478477-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.PMID 19478477Read ↗

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Semantic proximity Read ↗

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

Systemic involvement in TREX1-associated familial chilblain lupus.Semantic proximity Read ↗

Chilblain lupus erythematosus--a review of literature.Semantic proximity Read ↗

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.Semantic proximity Read ↗

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndromeSemantic proximity Read ↗

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.Semantic proximity Read ↗

Human disease phenotypes associated with mutations in TREX1.Semantic proximity Read ↗

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.Semantic proximity Read ↗

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family membersSemantic proximity Read ↗

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.Semantic proximity Read ↗

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.Semantic proximity Read ↗

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