Article
Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.
Expert review of hematology - 1 Jul 2025
Fiumara Martina, Molteni Raffaella, Scorpio Gianluca, Tomelleri Alessandro, Bergonzi Gregorio Maria, Ferrari Samuele, Matucci-Cerinic Marco, Cenci Simone, Dagna Lorenzo, Ciceri Fabio, Diral Elisa, Campochiaro Corrado
Abstract excerpt
INTRODUCTION: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disorder caused by somatic mutations in the UBA1 gene. Predominantly affecting males over 50, the disease presents with systemic inflammation, hematologic abnormalities, and features of clonal hematopoiesis, with nearly half of patients developing myelodysplastic syndromes (MDS). The interaction...
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