Case report: first diagnosis of VEXAS Syndrome in Costa Rica
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| Autores: | , , , , , |
|---|---|
| Formato: | artículo original |
| Estado: | Versión publicada |
| Fecha de Publicación: | 2025 |
| Descrição: | 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 |
| Recursos: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Idioma: | Español |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/61773 |
| Acesso em linha: | https://revistas.ucr.ac.cr/index.php/medica/article/view/61773 |
| Palavra-chave: | Síndrome VEXAS, gen UBA1, autoinflamatorio, síndrome mielodisplásico, reporte de caso VEXAS syndrome, UBA1 gene, autoinflammatory disease, myelodysplastic syndrome, case report |