{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T17:30:28Z","timestamp":1789579828863,"version":"build-2803163510"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant microvascular disorder caused by C-terminal truncating mutations in TREX1 gene, which impair protein localization and lead to multisystem involvement. We report a patient carrying the pathogenic TREX1 variant NM_033629.6:c.703dup (p.Val235fs), the most frequently described mutation in RVCL-S, whose clinical course was consistent with the classic phenotype but with simultaneous pulmonary granulomatous lesions compatible with sarcoidosis. Transcriptomic analysis in both the patient and his pre-asymptomatic daughter, who carries the same variant, revealed a similarly mild upregulation of inflammatory signaling pathways. Treatment with a Janus kinase inhibitor in the patient was followed by transient clinical stabilization before subsequent progression. This case expands the phenotypic spectrum of RVCL-S and underscores the importance of systematic immunological monitoring and clinical surveillance to support future development of timely strategies in asymptomatic carriers.<\/jats:p>","DOI":"10.3389\/fimmu.2025.1707532","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T06:40:42Z","timestamp":1768372842000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature"],"prefix":"10.3389","volume":"16","author":[{"given":"Patricia","family":"Tato-Moreno","sequence":"first","affiliation":[{"name":"Immunology Department, Hospital General Universitario Gregorio Mara\u00f1\u00f3n","place":["Madrid, Spain"]},{"name":"Instituto de Investigaci\u00f3n Sanitaria Gregorio Mara\u00f1\u00f3n","place":["Madrid, 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