Jose Manuel Mascaro, Ignasi Rodriguez-Pinto, Gabriela Poza, Anna Mensa-Vilaro, Julian Fernandez-Martin, Luis Caminal-Montero, Gerard Espinosa, Jose Hernández-Rodríguez, Marina Diaz, Joana Rita-Marques, Raimon Sanmarti, Santos Castañeda, Dolores Colunga, Rubén Coto-Hernández, Patricia Fanlo, Jose Ignacio Elejalde, Segundo Bujan, Ignasi Figueras, Francisco Manuel Marco, Mariano Andrés, Silvia Suárez, Andres Gonzalez-Garcia, Xavier Fustà-Novell, Clara Garcia-Belando, Ana Granados, Maria Teresa Fernandez-Figueras, Neus Quilis, Maria Orriols-Caba, Ricardo Gómez de la Torre, Maria Cinta Cid, Georgina Espígol-Frigolé, Alba Alvarez-Abella, Eztizen Labrador, Maria Rozman, Monica Lopez-Guerra, Paola Castillo, Jose R Alamo-Moreno, Eva Gonzalez-Roca, Susana Plaza, Virginia Fabregat, Rocio Lara, Esther F Vicente-Rabaneda, Sonia Tejedor-Vaquero, Giuliana Magri, Nuria Bonet, Manuel Solis-Moruno, Andrea Cerutti, Oscar Fornas, Ferran Casals, Jordi Yagüe, Juan I Aróstegui
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 Sanger and amplicon-based deep sequencing...
December 2023: Annals of the Rheumatic Diseases