VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells.
Other autoinflammatory conditions that can occur in individuals with VEXAS syndrome include periorbital angioedema, uveitis and scleritis, relapsing polychondritis, and polyarteritis nodosa.
[9] It was first reported in The New England Journal of Medicine in October 2020 where Beck et al wrote: "Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes".
In 2022 the National Cancer Institute announced a three-year clinical trial to evaluate stem cell transplant as a possible treatment for patients with VEXAS.
[13] Scientists, including David B. Beck, one of the original discoverers, at the New York University Grossman School of Medicine and NYU Langone Health were also actively researching the condition.