VEXAS

名词 n.

英文释义

名词 n.
  1. An autoimmune disease that causes inflammation in the body and mostly affects men. uncountable
    — 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.

词源

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).
0 次浏览 数据来源: Wiktionary