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Abstract
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.
References
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Copyright (c) 2025 Rodrigo Masís-Mejía, Luis Miguel Brenes-Piedra, María Paz Jiménez-Solera, Carlos Santamaría-Quesada, Alejandra Gallegos-Mesén, Marvin Sánchez-Benavides