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Article

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

Journal of immunology (Baltimore, Md. : 1950) - 1 Oct 2017

Achleitner Martin, Kleefisch Martin, Hennig Alexander, Peschke Katrin, Polikarpova Anastasia, Oertel Reinhard, Gabriel Benjamin, Schulze Livia, Lindeman Dirk, Gerbaulet Alexander, Fiebig Uwe, Lee-Kirsch Min Ae, Roers Axel, Behrendt Rayk

Abstract excerpt

Biallelic mutations of three prime repair exonuclease 1 (TREX1) cause the lupus-like disease Aicardi-Goutières syndrome in which accumulation of a yet unknown endogenous DNA substrate of TREX1 triggers a cyclic GMP-AMP synthase-dependent type I IFN response and systemic autoimmunity. Products of reverse transcription originating from endogenous retroelements have been suggested to be a major substrate for TREX1,...

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Source

Identifiers

PMID: 28835460
DOI: 10.4049/jimmunol.1700714

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.

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Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.PMID 28835460Read ↗

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Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.Semantic proximity Read ↗

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