Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism

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 studie...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Autoinflammatory Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646843/
https://www.ncbi.nlm.nih.gov/pubmed/37666646
http://dx.doi.org/10.1136/ard-2023-224460

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