VEXAS (vacuoles, E1, X-linked, autoinflammatory, somatic) is a genetic disease caused by somatic mutations in UBA1, resulting in severe, systemic autoinflammation and hematologic manifestations. UBA1 encodes the E1 ubiquitin-activating enzyme, which is essential for initiating the majority of ubiqui...
ORGANISM(S): Homo sapiens