VEXAS syndrome: A 2-case series report

Reumatol Clin (Engl Ed). 2024 Jun-Jul;20(6):341-344. doi: 10.1016/j.reumae.2024.05.006. Epub 2024 Jun 25.

Abstract

VEXAS syndrome is a rare entity secondary to UBA1 gene mutations, located on the X chromosome. This mutation generates, as a consequence, a characteristic vacuolation on haematopoietic stem-cells. It is characterized by multiple autoinflammatory and haematologic manifestations, which respond and end up being dependent on corticosteroid treatment. In this publication we present a 2-case series diagnosed at our hospital and make a brief literature review of the published evidence so far.

Keywords: Chondritis; Condritis; Myelodysplastic syndrome; Sweet syndrome; Síndrome de Sweet; Síndrome de VEXAS; Síndrome mielodisplásico; VEXAS syndrome; Vasculitis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Humans
  • Mutation
  • Ubiquitin-Activating Enzymes* / genetics

Substances

  • UBA1 protein, human
  • Ubiquitin-Activating Enzymes