Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is a recently described somatic autoinflammatory disease [1]. A genetic mutation in the UBA1 gene results in a deficiency of the encoded ubiquitin activating enzyme E1 involved in ubiquitination. The ubiquitination defect leads to an accumulation of intracellular stress, followed by the production of pro-inflammatory cytokines, resulting in the symptoms observed in the disease. In the presence of a suspicious clinical picture, the diagnosis is based on the presence of a pathogenic variant of UBA1.
