Last update 08 May 2025

VEXAS syndrome

Basic Info

Synonyms
VEXAS, VEXAS SYNDROME, VEXAS Syndrome
+ [5]
Introduction
An X-linked inherited condition caused by somatic mutation(s) in the UBA1 gene, encoding ubiquitin-like modifier-activating enzyme 1. It is characterized by the adult onset of rheumatologic symptoms in males, including recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, arthralgias, facial chondritis and hematologic abnormalities.

Analysis

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