Article
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Annals of the rheumatic diseases - 1 Dec 2023
Mascaro Jose Manuel, Rodriguez-Pinto Ignasi, Poza Gabriela, Mensa-Vilaro Anna, Fernandez-Martin Julian, Caminal-Montero Luis, Espinosa Gerard, Hernández-Rodríguez Jose, Diaz Marina, Rita-Marques Joana, Sanmarti Raimon, Castañeda Santos, Colunga Dolores, Coto-Hernández Rubén, Fanlo Patricia, Elejalde Jose Ignacio, Bujan Segundo, Figueras Ignasi, Marco Francisco Manuel, Andrés Mariano, Suárez Silvia, Gonzalez-Garcia Andres, Fustà-Novell Xavier, Garcia-Belando Clara, Granados Ana, Fernandez-Figueras Maria Teresa, Quilis Neus, Orriols-Caba Maria, Gómez de la Torre Ricardo, Cid Maria Cinta, Espígol-Frigolé Georgina, Alvarez-Abella Alba, Labrador Eztizen, Rozman Maria, Lopez-Guerra Monica, Castillo Paola, Alamo-Moreno Jose R, Gonzalez-Roca Eva, Plaza Susana, Fabregat Virginia, Lara Rocio, Vicente-Rabaneda Esther F, Tejedor-Vaquero Sonia, Magri Giuliana, Bonet Nuria, Solis-Moruno Manuel, Cerutti Andrea, Fornas Oscar, Casals Ferran, Yagüe Jordi, Aróstegui Juan I
Abstract excerpt
BACKGROUND: The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants. OBJECTIVES: To investigate the presence of VEXAS syndrome among patients with adult-onset undiagnosed AID. Additional studies evaluated the mosaicism distribution and the circulating cytokines. METHODS: Gene analyses were performed by both...
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