Article
Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome.
Frontiers in immunology - 1 Jan 2021
Staels Frederik, Betrains Albrecht, Woei-A-Jin F J Sherida H, Boeckx Nancy, Beckers Marielle, Bervoets An, Willemsen Mathijs, Neerinckx Barbara, Humblet-Baron Stephanie, Blockmans Daniel Engelbert, Vanderschueren Steven, Schrijvers Rik
Abstract excerpt
Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in patients with adult-onset inflammatory syndromes, often accompanied by myelodysplastic syndrome1. All patients had myeloid lineage-restricted somatic mutations in UBA1 affecting the Met41 residue of the protein and resulting in decreased cellular ubiquitylation activity and...
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