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...

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Bibliographic Details
Published in:Frontiers in immunology 2022-12, Vol.13, p.944810
Main Authors: Fabozzi, Francesco, De Vito, Rita, Gaspari, Stefania, Leone, Fabrizio, Delvecchio, Maurizio, Agolini, Emanuele, Galaverna, Federica, Mastronuzzi, Angela, Pagliara, Daria, De Ioris, Maria Antonietta
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Arthritis
autoimmunity
Histiocytosis, Sinus - diagnosis
Histiocytosis, Sinus - genetics
Histiocytosis, Sinus - pathology
Humans
Immunology
LRBA deficiency
Lymphadenopathy
neonatal diabetes
primary immunodeficiencies
Rosai-Dorfman’s disease
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Summary: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.
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2022.944810