Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry

Br J Haematol. 2022 Feb;196(4):969-974. doi: 10.1111/bjh.17893. Epub 2021 Oct 14.


Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) is a new monogenic autoinflammatory syndrome caused by somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutation, often associated with MDS, whose treatment is difficult and not yet codified. Based on a French nationwide registry of 116 patients with VEXAS, we report the efficacy and safety of azacitidine treatment in 11 patients with VEXAS with MDS. Clinical response of VEXAS to azacitidine was achieved in five patients (46%), during 6, 8+, 12, 21, 27+ months respectively, suggesting that azacitidine can be effective in selected patients with VEXAS and associated MDS.

Keywords: VEXAS syndrome; azacitidine; myelodysplastic syndrome.

MeSH terms

  • Aged
  • Antimetabolites, Antineoplastic / pharmacology
  • Antimetabolites, Antineoplastic / therapeutic use*
  • Azacitidine / pharmacology
  • Azacitidine / therapeutic use*
  • Female
  • France
  • Genes, X-Linked / genetics*
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / drug therapy*
  • Registries
  • Skin Diseases, Genetic / drug therapy*


  • Antimetabolites, Antineoplastic
  • Azacitidine

Supplementary concepts

  • VEXAS syndrome