VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis

J Clin Rheumatol. 2023 Sep 1;29(6):298-306. doi: 10.1097/RHU.0000000000001905. Epub 2022 Oct 17.


VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of this syndrome is yet unknown, understanding the clinical phenotype can assist clinicians in prompt recognition of cases among patients with glucocorticoid-responsive but immunosuppressive-resistant inflammatory symptoms. The pathophysiology, clinical presentation, diagnostic methods, treatment, and prognosis of VEXAS are herein reviewed.

Trial registration: NCT05027945.

Publication types

  • Review

MeSH terms

  • Glucocorticoids* / therapeutic use
  • Humans
  • Immunosuppressive Agents
  • Mutation
  • Myelodysplastic Syndromes*
  • Prognosis
  • Syndrome


  • Glucocorticoids
  • Immunosuppressive Agents

Supplementary concepts

  • VEXAS syndrome

Associated data