Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Jose Manuel MascaroIgnasi Rodriguez-PintoGabriela PozaAnna Mensa-VilaroJulián Fernández-MartínLuis Caminal-MonteroGerard EspinosaHernández-Rodríguez JoséMarina DiazJoana Rita-MarquesRaimon SanmartíSantos CastañedaDolores ColungaRubén Coto-HernándezPatricia FanloJose Ignacio ElejaldeSegundo BujanIgnasi FiguerasFrancisco Manuel MarcoMariano AndrèsSilvia Suárez-DíazAndres Gonzalez-GarciaXavier Fustà-NovellClara Garcia-BelandoAna GranadosMaria Teresa Fernandez-FiguerasNeus QuilisMaria Orriols-CabaRicardo Gómez de la TorreMaria Cinta CidGeorgina Espígol-FrigoléAlba Alvarez-AbellaEztizen LabradorMaria RozmanMonica Lopez-GuerraPaola CastilloJose R Alamo-MorenoEva Gonzalez-RocaSusana PlazaVirginia FabregatRocio LaraEsther F Vicente-RabanedaSonia Tejedor-VaqueroGiuliana MagriNuria BonetManuel Solis-MorunoAndrea CeruttiÒscar FornasFerran CasalsJordi YagüeJuan Ignacio ArósteguiPublished in: Annals of the rheumatic diseases (2023)
mosaicism in non-haematopoietic tissue, which questions the previous concept of myeloid-restricted mosaicism and may have conceptual consequences for the disease mechanisms.