UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

Abstract

ABSTRACT Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. It often coexists with myelodysplastic syndrome, which can occur due to DNA (cytosine-5)-methyltransferase 3A (DNMT3A) mutation. These patients, predominantly males, present after the fifth decade of life with unique systemic inflammatory clinical features and have haematological abnormalities and vacuolated precursor cells on bone marrow pathology. Here we describe a unique case of VEXAS syndrome in a patient harbouring DNMT3A gene mutation with coexisting UBA1 mutation with a review of literature.