Abstract
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly described autoinflammatory disease with various manifestations mimicking myelodysplastic syndrome, vasculitis, and neutrophilic dermatosis, affecting males over 50 years old. The etiology is an acquired error of innate immunity due to a somatic mutation in the ubiquitylation-controlling gene UBA1, resulting in an aberrant inflammatory process. Although there is no specific therapy for VEXAS syndrome, many agents including cyclophosphamide, anti-IL-6, and Janus kinase (JAK) inhibitors have been tried, with varying results so far. Hereby, a literature review is presented, summarizing the current knowledge regarding the pathogenesis, clinical manifestations, and treatment options for VEXAS syndrome.