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VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene in blood cells precursors; the gene encodes one of the two E1 enzyme isoforms that...

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Detalles Bibliográficos
Autores principales: Vitale, Antonio, Caggiano, Valeria, Bimonte, Antonio, Caroni, Federico, Tosi, Gian Marco, Fabbiani, Alessandra, Renieri, Alessandra, Bocchia, Monica, Frediani, Bruno, Fabiani, Claudia, Cantarini, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082120/
https://www.ncbi.nlm.nih.gov/pubmed/36662445
http://dx.doi.org/10.1007/s11739-023-03193-z