Abstract
VEXAS syndrome is a recently described hemato inflammatory disease. It is an acronym from the syndrome’s key characteristics: vacuoles in bone marrow biopsies, low levels of ubiquitin activating enzyme (E1 enzyme), X-linked, autoinflammatory, somatic. It results from a somatically acquired mutation affecting methionine 41 of the E1-ubiquitin ligase UBA1, leading to the expression of a catalytically impaired isoform that drives inflammation. As this gene is located on the X chromosome, only men appear to be affected by this syndrome. Patients have severe inflammatory symptoms that affect multiple organs. Clinical features bridge rheumatological, dermatological, ophthalmological, respiratory, and hematological conditions. There is an association between severe autoinflammatory manifestations and myeloid dysplasia.
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