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Article

VEXAS syndrome: a diagnostic puzzle.

RMD open - 1 Aug 2023

Ruffer Nikolas, Krusche Martin

Abstract excerpt

The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad range of phenotypes such as vasculitis, relapsing polychondritis and Sweet's syndrome. In the past, VEXAS patients have...

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Identifiers

PMID: 37532466
DOI: 10.1136/rmdopen-2023-003332
PMCID: PMC10401208

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