VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis

Abstract excerpt

Dear Editor, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome is a recently described X-linked autoinflammatory disease caused by somatic mutations of the UBA1 gene in haematopoietic stem cells, which encodes for a ubiquitin-activating (E1) enzyme described by Beck et al. [1]. Almost all patients carry somatic missense mutations affecting methionine at amino acid position 41 in the...

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