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

BackgroundThe 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...

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Автори:	Wenjie Hao, Shu Zhai, Qianqian Zhu, Xuan Zhou, Tingting Shen, Wei He, Yuying Sun, Wenming Yang, Yulong Yang
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Frontiers Media S.A. 2026-03-01
Серія:	Frontiers in Immunology
Предмети:	case report lupus nephritis retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) systemic lupus erythematosus TREX1 gene
Онлайн доступ:	https://www.frontiersin.org/articles/10.3389/fimmu.2026.1758743/full
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