Portal de investigación
Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Tato-Moreno P
- Lavilla Olleros C
- Barrientos Guerrero M
- Mensa-Vilaro A
- Durán-García ME
- Sánchez-Mateos P
- García-Martínez E
Grupos
Abstract
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.
Copyright © 2026 Tato-Moreno, Lavilla Olleros, Balastegui Martín, Barrientos Guerrero, Mensa-Vilaro, Durán-García, Sánchez-Mateos and García-Martínez.
Datos de la publicación
- ISSN/ISSNe:
- 1664-3224, 1664-3224
- Tipo:
- Article
- Páginas:
- 1707532-1707532
- PubMed:
- 41613112
- Enlace a otro recurso:
- www.scopus.com
- Factor de Impacto:
- 2,331 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
Frontiers in Immunology FRONTIERS MEDIA SA
Documentos
Filiaciones
Keywords
- JAK-inhibitor; RVCL-S; TREX1; autoinflammation; case report; targeted-therapy; vasculopathy
Cita
Tato P,Lavilla C,BALASTEGUI H,Barrientos M,Mensa A,Durán ME,Sánchez P,García E. Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature. Front. Immunol. 2026. 16. p. 1707532-1707532. IF:7,000. (1).