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Article

Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.

Journal of clinical immunology - 13 Dec 2024

Chauvin Samuel D, Holley Joe A, Poddar Subhajit, Miner Cathrine A, Kumble Lindsay, Fu Jiayuan, Laue-Gizzi Hanka, Hardy Todd A, Miner Jonathan J

Abstract excerpt

TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients...

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Identifiers

PMID: 39671052
DOI: 10.1007/s10875-024-01846-y
PMCID: PMC11645301

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?Semantic proximity Read ↗

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