Article
First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.
Frontiers in immunology - 1 Jan 2026
Hao Wenjie, Zhai Shu, Zhu Qianqian, Zhou Xuan, Shen Tingting, He Wei, Sun Yuying, Yang Wenming, Yang Yulong
Abstract excerpt
Background: The TREX1 gene is fundamental for the removal of cytosolic DNA and the preservation of immune tolerance. Mutations within this gene are implicated in a range of disorders, such as Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCL-S), Aicardi-Goutières syndrome (AGS), familial chilblain lupus, and systemic lupus erythematosus (SLE). To the best of our knowledge,...
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