Article
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Internal and emergency medicine - 1 Apr 2023
Vitale Antonio, Caggiano Valeria, Bimonte Antonio, Caroni Federico, Tosi Gian Marco, Fabbiani Alessandra, Renieri Alessandra, Bocchia Monica, Frediani Bruno, Fabiani Claudia, Cantarini Luca
Abstract excerpt
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene in blood cells precursors; the gene encodes one of the two E1 enzyme isoforms that initiates ubiquitylation in cell's cytoplasm. VEXAS syndrome leads to systemic inflammation, with all organs and...
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