Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.

Abstract

Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

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

Substances

  • Ubiquitin-Activating Enzymes