VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disease caused by somatic mutations in UBA1. In this Primer, Beck and colleagues discuss the epidemiology and mechanisms of VEXAS syndrome, summarize its diagnosis and management, and discuss the quality of life of patients as well as outstanding research questions.
- David B. Beck
- Sophie Georgin-Lavialle
- Samuele Ferrari
