VEXAS

English

Etymology

Acronym of vacuoles, E1 enzyme, X chromosome, autoinflammatory, somatic, after the core features of the disorder. First discovered in October 2020, with the report from The New England Journal of Medicine and identified by a multidisciplinary team of scientists (see quotations below).

Noun

VEXAS (uncountable)

  1. (medicine, biology) An autoimmune disease that causes inflammation in the body and mostly affects men. [from 2020]
    Alternative form: VEXAS syndrome
    • 2020 October 27, David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, et alia, “Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease”, in New England Journal of Medicine, volume 383, →DOI:
      Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes. We named this genetic disorder the VEXAS syndrome, which is caused by myeloid-restricted somatic missense mutations in UBA1.
    • 2021 July 1, Peter C. Grayson, Bhavisha A. Patel, Neal S. Young, “VEXAS syndrome”, in Blood, volume 137, number 26, →DOI, page 3591:
      Additionally, patients with VEXAS suffer from a spectrum of hematologic problems, including macrocytic anemia, thrombocytopenia, thromboembolic disease, and progressive bone marrow failure, which can evolve to hematologic malignancy
    • 2023 February 14, Vicki Contie, “VEXAS syndrome more common than realized”, in National Institutes of Health‎[1]:
      The researchers note that a diagnosis based on symptoms alone could easily miss cases of VEXAS that would be caught by UBA1 testing.

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