Article
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.
Mayo Clinic proceedings - 1 Oct 2021
Koster Matthew J, Kourelis Taxiarchis, Reichard Kaaren K, Kermani Tanaz A, Beck David B, Cardona Daniela Ospina, Samec Matthew J, Mangaonkar Abhishek A, Begna Kebede H, Hook C Christopher, Oliveira Jennifer L, Nasr Samih H, Tiong Benedict K, Patnaik Mrinal M, Burke Michelle M, Michet Clement J, Warrington Kenneth J
Abstract excerpt
The objective of this study is to describe the clinical features and outcomes of patients with the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Nine men with somatic mutations in the UBA1 gene were identified; the most frequent variant was p.Met41Thr (7 of 9, 78%). The median age at VEXAS diagnosis was 74 (67, 76.5) years, and patients had a median duration of symptoms...
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