<unk>  is an adult-onset autoinflammatory disease affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name derives from Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. The disease arises in late adulthood (typically after the age of 50) and causes both autoinflammatory and hematologic symptoms. Fever and skin conditions—particularly rashes resembling those seen in Sweet<unk> —are common signs. Other autoinflammatory conditions that can occur in individuals with<unk>  include periorbital angioedema, uveitis and scleritis, relapsing polychondritis, and polyarteritis nodosa. Inflammation may also affect the lungs. Hematologic issues include macrocytic anemia, a low platelet count, and a predisposition towards developing hematologic malignancies, especially myelodysplastic<unk> . On bone marrow examination, people with the disease exhibit abnormal vacuoles in precursor cells of the myeloid and erythroid lineages.<unk>  becomes more severe over time and carries a high mortality rate. Symptoms can be managed with high-dose corticosteroid therapy, but this can cause serious adverse effects, and symptoms typically recur after the dosage is lowered. A variety of alternative treatments are under investigation. The<unk>  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<unk> s." 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".
VEXAS syndrome
MERRF syndrome
3C syndrome
IPEX syndrome
Fryns-Aftimos syndrome
Hagemoser–Weinstein–Bresnick syndrome
Crome syndrome
RIDDLE syndrome