Article
Inflammatory cell death and monocyte dysfunction in VEXAS syndrome.
Blood - 11 Jun 2026
Breillat Paul, Magaziner Samuel J, Camus Stéphane, Dionet Léa, De Valence Benjamin, Sohier Pierre, Majdi Amine, Delcros Quentin, Pallotti Federica, Rivet Nadia, Chevalier Kevin, Poux Margot, Lam Athena, Tharaux Pierre-Louis, Lenoir Olivia, Zoued Abdelrahim, Kosmider Olivier, Beck David B, Terrier Benjamin
Abstract excerpt
ABSTRACT: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in the UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. Its pathogenesis remains poorly understood, particularly the mechanisms by which UBA1 mutations disrupt myeloid cell function in the context of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.