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VEXAS syndrome: a diagnostic puzzle

The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad ran...

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Detalles Bibliográficos
Autores principales: Ruffer, Nikolas, Krusche, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401208/
https://www.ncbi.nlm.nih.gov/pubmed/37532466
http://dx.doi.org/10.1136/rmdopen-2023-003332