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

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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Bibliographic Details
Main Authors: Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Immunology
Subjects:
LRBA deficiency
Rosai-Dorfman’s disease
neonatal diabetes
primary immunodeficiencies
autoimmunity
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.944810/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2022.944810/full

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