Somatic mutations in UBA1, have been reported to cause VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a severe inflammatory disorder characterized by a heterogeneous clinical spectrum that includes fever, cytopenias, dysplastic bone marrow with characteristic vacuoles in the erythroid and myeloid precursors, cutaneous and pulmonary inflammation, chondritis and various types of vasculitis. Here, UBA1 is linked to VEXAS syndrome.