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Article

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

European journal of medical genetics - 1 Dec 2017

Kisla Ekinci Rabia Miray, Balci Sibel, Bisgin Atil, Altintas Derya Ufuk, Yilmaz Mustafa

Abstract excerpt

Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations....

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Source

Identifiers

PMID: 28919362
DOI: 10.1016/j.ejmg.2017.09.004

Genes

TREX1

Variants

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.

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