英和和英

語源

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).

名詞

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:

     The researchers note that a diagnosis based on symptoms alone could easily miss cases of VEXAS that would be caught by UBA1 testing.

アナグラム

• vaxes