Abstract
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic; vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) was first described in October 2020 by D. B.
Beck et al. in a group of 25 male patients with a late onset of a whole constellation of autoinflammatory symptoms, which often accompanied haematological abnormalities. The described manifestations included neutrophilic cutaneous and pulmonary inflammatory manifestations, chondritis, vasculitis, arthritis and elevations of acute phase reactants.
Haematological abnormalities include cytopenia and vacuolation of myeloid and erythroid precursor cells in the dysplastic bone marrow. The genetic basis of VEXAS syndrome is a somatic mutation affecting methionine 41 (p.Met41) in the UBA1 gene, bound to the X chromosome, which encodes an enzyme that initiates ubiquitination, leading to reduced cellular ubiquitination activity and hyperactivation of innate immune pathways.
This article aims to bring VEXAS syndrome closer to clinical practice.