VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

Huijun Huang, Wenjun Zhang, Wenyu Cai, Jinqin Liu, Huijun Wang, Tiejun Qin, Zefeng Xu, Bing Li, Shiqiang Qu, Lijuan Pan, Gang Huang, Robert Peter Gale, Zhijian Xiao

Research output: Contribution to journalLetterpeer-review

36 Scopus citations


VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies.

Original languageEnglish (US)
Article number23
JournalExperimental Hematology and Oncology
Issue number1
StatePublished - Dec 2021
Externally publishedYes


  • Autoimmune disorders
  • Cytoplasmic vacuolation
  • Myelodysplastic syndromes
  • UBA1 mutation
  • VEXAS syndrome

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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