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Professional article
French

Syndrome VEXAS : quand y penser ?

Other title[VEXAS syndrome : when do we have to consider it ?]
Published inRevue médicale suisse, vol. 18, no. 776, p. 652-659
Publication date2022-04-06
Abstract

VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia.

engfre
Keywords
  • Adult
  • Humans
  • Inflammation
  • Mutation
  • Pyoderma Gangrenosum
  • Syndrome
  • Ubiquitin-Activating Enzymes / genetics
  • Vasculitis
Citation (ISO format)
COATTRENEC, Yann et al. Syndrome VEXAS : quand y penser ? In: Revue médicale suisse, 2022, vol. 18, n° 776, p. 652–659. doi: 10.53738/REVMED.2022.18.776.652
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ISSN of the journal1660-9379
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