Vexas Syndrome

The VEXAS syndrome is an adult-onset autoinflammatory disease affecting males, caused by a mutation in the UBA1 gene. The name derives from Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic.

The syndrome was first reported in a paper in The New England Journal of Medicine in October 2020, by Beck et al, who write: "Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes." An editorial in the same issue describes the work as a "fascinating discovery" which "is of immediate importance to rheumatologists and has far-reaching consequences of general clinical interest. It builds on previous findings suggesting that postzygotic somatic mutation may be a more frequent cause of human disease than previously recognized".

The podcast The Naked Scientists featured an interview with Dan Kastner about VEXAS, in an episode titled "Mink, Ivory, & a Disease Discovered Backwards" broadcast on 13 November 2020.