Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.

Features for consideration of VEXAS syndrome in patients with autoinflammatory symptoms include dermatologic manifestations, myelodysplastic syndrome or monoclonal gammopathy, and vacuolation of myeloid and erythroid precursors in bone marrow. Through genomic sequencing, some patients with previously undiagnosed autoinflammatory diseases are now understood to have a new syndrome called vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. [Extracted from the article]