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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2023
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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 |
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