VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome -a Rare Cause of Recurrent Fever, Skin Lesion, Neuropathy, Venous Thromboembolism, CNS Vasculitis and Encephalopathy (P6-8.007)

Genetic testing for mutations in the UBA1 gene should be considered in male patients with recurrent episodes of fever, encephalopathy, skin involvement, neuropathy, nasal chondritis, pulmonary infiltrates, and venous thromboembolism. The diagnosis of VEXAS syndrome relies on identifying an M41 or splice-site mutation in the UBA1 gene from various biological samples, primarily blood and bone marrow.