VEXAS Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome