Article
A Case of VEXAS Syndrome.
WMJ : official publication of the State Medical Society of Wisconsin - 1 Jan 2025
Analytis Stephanie, Kothari Taha, Wagle Janavi, Thao KhouaNeng, Ozcerkirdek Emre, Ahmed Rizwan, Huether Samantha, Krueziger Lisa Baumann, Hutchison Bailey, Jha Pinky
Abstract excerpt
INTRODUCTION: EXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare disease caused by somatic mutations in the UBA1 gene, first identified in 2020. Prevalence is unclear, and there are no established treatment guidelines, highlighting the need for disease recognition. CASE PRESENTATION: We report the case of a 34-year-old African American man with a prior diagnosis of rheumatoid...
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