VEXAS Syndrome: Clinical Case Series From a Canadian Cohort

J Rheumatol. 2024 Mar 15:jrheum.2022-0226. doi: 10.3899/jrheum.2022-0226. Online ahead of print.ABSTRACTVEXAS (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.PMID:38490666 | DOI:10.3899/jrheum.2022-0226

Source: Journal of Rheumatology - March 15, 2024 Category: Rheumatology Authors: Stephen Williams Mohan Stewart Aurore Fifi-Mah Natasha Dehghan Source Type: research