Login / Signup

VEXAS syndrome: a newly discovered systemic rheumatic disorder.

Eugeniusz J Kucharz
Published in: Reumatologia (2023)
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.
Keyphrases
  • case report
  • rheumatoid arthritis
  • newly diagnosed
  • copy number
  • prognostic factors
  • physical activity
  • drug induced
  • gene expression
  • bone marrow
  • patient reported outcomes
  • patient reported