Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

We reported a new pathogenic variant of LRBA deficiency with a complex phenotype—neonatal diabetes, very early-onset inflammatory bowel disease, and polyarthritis—who presented with lymph node enlargement. A case of Rosai-Dorfman’s disease (RDD) was confirmed. The occurrence of an RDD lesion in LRBA...

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Detalles Bibliográficos
Autores principales: Fabozzi, Francesco, De Vito, Rita, Gaspari, Stefania, Leone, Fabrizio, Delvecchio, Maurizio, Agolini, Emanuele, Galaverna, Federica, Mastronuzzi, Angela, Pagliara, Daria, De Ioris, Maria Antonietta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9780374/
https://www.ncbi.nlm.nih.gov/pubmed/36569874
http://dx.doi.org/10.3389/fimmu.2022.944810

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