Case report: first diagnosis of VEXAS Syndrome in Costa Rica

 

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Autores: Masís-Mejía, Rodrigo, Brenes-Piedra, Luis Miguel, Jiménez-Solera, María Paz, Santamaría-Quesada, Carlos, Gallegos-Mesén, Alejandra, Sánchez-Benavides, Marvin
פורמט: artículo original
סטטוס:Versión publicada
Fecha de Publicación:2025
תיאור:Introduction: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an autoinflammatory condition caused by somatic mutations in the UBA1 gene on the X chromosome. Materials: We present the case of a 65-year-old male with relapsing polychondritis admitted with severe systemic inflammation, fever, deep vein thrombosis, and myelodysplasia. Infectious and rheumatologic causes were ruled out. Results: Genetic sequencing confirmed a UBA1 mutation. Conclusion: Steroid treatment led to rapid clinical improvement and decreased inflammatory parameters.
País:Portal de Revistas UCR
מוסד:Universidad de Costa Rica
Repositorio:Portal de Revistas UCR
שפה:Español
OAI Identifier:oai:archivo.portal.ucr.ac.cr:article/61773
גישה מקוונת:https://archivo.revistas.ucr.ac.cr/index.php/medica/article/view/61773
מילת מפתח:Síndrome VEXAS, gen UBA1, autoinflamatorio, síndrome mielodisplásico, reporte de caso
VEXAS syndrome, UBA1 gene, autoinflammatory disease, myelodysplastic syndrome, case report

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