VEXAS Syndrome: Clinical Case Series From a Canadian Cohort.
Stephen WilliamsMohan StewartAurore Fifi-MahNatasha DehghanPublished in: The Journal of rheumatology (2024)
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic; OMIM #301054) syndrome is an autoinflammatory condition first described in November 2020. 1 It is characterized by vacuoles in myeloid and erythroid precursor cells on bone marrow biopsy and caused by a monogenic somatic mutation in the ubiquitin-like modifier activating enzyme 1 ( UBA1 ) gene. 1,2 .