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Article

Human disease phenotypes associated with mutations in TREX1.

Journal of clinical immunology - 1 Apr 2015

Rice Gillian I, Rodero Mathieu P, Crow Yanick J

Abstract excerpt

Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.

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Source

Identifiers

PMID: 25731743
DOI: 10.1007/s10875-015-0147-3

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Human disease phenotypes associated with mutations in TREX1.PMID 25731743Read ↗

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

First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.Semantic proximity Read ↗

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

New roles for the major human 3'-5' exonuclease TREX1 in human disease.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 ↗

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