VEXAS syndrome: lessons learnt from an early Australian case series

Intern Med J. 2022 Apr;52(4):658-662. doi: 10.1111/imj.15742.


VEXAS is a newly recognised adult-onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the refractory nature of the condition. They highlight the importance of multidisciplinary collaboration for early diagnosis and the need for new therapeutic options.

Keywords: UBA1 mutation; VEXAS syndrome; autoinflammatory syndrome; macrocytic anaemia; myelodysplastic syndrome.

MeSH terms

  • Adult
  • Australia
  • Humans
  • Mutation
  • Research*
  • Syndrome
  • Ubiquitin-Activating Enzymes* / genetics


  • Ubiquitin-Activating Enzymes