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Article

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

Journal of molecular medicine (Berlin, Germany) - 1 May 2007

Lee-Kirsch Min Ae, Chowdhury Dipanjan, Harvey Scott, Gong Maoliang, Senenko Lydia, Engel Kerstin, Pfeiffer Christiane, Hollis Thomas, Gahr Manfred, Perrino Fred W, Lieberman Judy, Hubner Norbert

Abstract excerpt

We recently described a novel autosomal-dominant genodermatosis, termed familial chilblain lupus, and mapped its genetic locus to chromosome 3p21. Familial chilblain lupus manifests in early childhood with ulcerating acral skin lesions and is associated with arthralgias and circulating antinuclea...

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Source

Identifiers

PMID: 17440703
DOI: 10.1007/s00109-007-0199-9

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17440703-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.PMID 17440703Read ↗

Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.Semantic proximity Read ↗

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.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 ↗

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.Semantic proximity Read ↗

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

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

Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.Semantic proximity Read ↗

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

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early‐Onset Cerebral Systemic Lupus Erythematosus by Whole‐Exome SequencingSemantic 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 ↗

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.Semantic proximity Read ↗

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