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
格式:	artículo original
状态:	Versión publicada
Fecha de Publicación:	2025
实物特征:	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
机构:	Universidad de Costa Rica
Repositorio:	Portal de Revistas UCR
语言:	Español
OAI Identifier:	oai:portal.ucr.ac.cr:article/61773
在线阅读:	https://revistas.ucr.ac.cr/index.php/medica/article/view/61773
Palabra clave:	Síndrome VEXAS, gen UBA1, autoinflamatorio, síndrome mielodisplásico, reporte de caso VEXAS syndrome, UBA1 gene, autoinflammatory disease, myelodysplastic syndrome, case report