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-deficiency has never been reported so far.

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease / Fabozzi, Francesco; De Vito, Rita; Gaspari, Stefania; Leone, Fabrizio; Delvecchio, Maurizio; Agolini, Emanuele; Galaverna, Federica; Mastronuzzi, Angela; Pagliara, Daria; De Ioris, Maria Antonietta. - In: FRONTIERS IN IMMUNOLOGY. - ISSN 1664-3224. - 13:(2022). [10.3389/fimmu.2022.944810]

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

Fabozzi, Francesco;Leone, Fabrizio;Agolini, Emanuele;Mastronuzzi, Angela;
2022

Abstract

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-deficiency has never been reported so far.
2022
LRBA deficiency; Rosai-Dorfman’s disease; autoimmunity; neonatal diabetes; primary immunodeficiencies
01 Pubblicazione su rivista::01a Articolo in rivista
Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease / Fabozzi, Francesco; De Vito, Rita; Gaspari, Stefania; Leone, Fabrizio; Delvecchio, Maurizio; Agolini, Emanuele; Galaverna, Federica; Mastronuzzi, Angela; Pagliara, Daria; De Ioris, Maria Antonietta. - In: FRONTIERS IN IMMUNOLOGY. - ISSN 1664-3224. - 13:(2022). [10.3389/fimmu.2022.944810]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1712864
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