Info
VEXAS syndrome
(vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
- Acquired/mosaic UBA1 (ubiquitylation enzyme on X chr) mutation in HSCs → myeloid + erythroid cytoplasmic vacuoles → heterogeneous but fever, cytopenias, chondritis, vasculitis, thrombosis, aveolitis, neutrophilic dermatoses common (NEJM 2020;383:2628)
- Epidemiology: ♂, mean onset age >60
- Steroids reduce symptoms but Rx otherwise unclear