{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T16:51:47Z","timestamp":1773939107496,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunity Inflam &amp;amp; Disease"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL\u2010S) is a rare autosomal dominant systemic microvascular disorder attributed to <jats:italic>TREX1<\/jats:italic> (three\u2010prime repair exonuclease\u20101) gene mutations, often proned to misdiagnosed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reported a case of RVCL\u2010S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL\u2010S.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 39\u2010year\u2010old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of <jats:italic>TREX<\/jats:italic>1 gene mutation or RCVL\u2010S.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our case establishes a compelling foundation for future RVCL\u2010S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL\u2010S emerges as a strategic approach to prevent potential diagnostic oversights.<\/jats:p><\/jats:sec>","DOI":"10.1002\/iid3.1367","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T11:40:35Z","timestamp":1723203635000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8502-1145","authenticated-orcid":false,"given":"Xinhui","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Geriatrics, Henan Provincial People's Hospital People's Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Innovation Center for Neurological Disorders, 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