Article
VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation.
Nature communications - 30 Jan 2024
Kosmider Olivier, Possémé Céline, Templé Marie, Corneau Aurélien, Carbone Francesco, Duroyon Eugénie, Breillat Paul, Chirayath Twinu-Wilson, Oules Bénédicte, Sohier Pierre, Luka Marine, Gobeaux Camille, Lazaro Estibaliz, Outh Roderau, Le Guenno Guillaume, Lifermann François, Berleur Marie, Le Mene Melchior, Friedrich Chloé, Lenormand Cédric, Weitten Thierry, Guillotin Vivien, Burroni Barbara, Boussier Jeremy, Willems Lise, Aractingi Selim, Dionet Léa, Tharaux Pierre-Louis, Vergier Béatrice, Raynaud Pierre, Ea Hang-Korng, Ménager Mickael, Duffy Darragh, Terrier Benjamin
Abstract excerpt
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). However, the precise physiological and clinical impact of these mutations remains poorly defined. Here we study a unique prospective cohort of VEXAS patients. We show that monocytes from VEXAS are quantitatively and...
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