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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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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author Fabozzi, Francesco
De Vito, Rita
Gaspari, Stefania
Leone, Fabrizio
Delvecchio, Maurizio
Agolini, Emanuele
Galaverna, Federica
Mastronuzzi, Angela
Pagliara, Daria
De Ioris, Maria Antonietta
author_facet Fabozzi, Francesco
De Vito, Rita
Gaspari, Stefania
Leone, Fabrizio
Delvecchio, Maurizio
Agolini, Emanuele
Galaverna, Federica
Mastronuzzi, Angela
Pagliara, Daria
De Ioris, Maria Antonietta
author_sort Fabozzi, Francesco
collection PubMed
description 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.
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spelling pubmed-97803742022-12-24 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 Front Immunol Immunology 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. Frontiers Media S.A. 2022-12-09 /pmc/articles/PMC9780374/ /pubmed/36569874 http://dx.doi.org/10.3389/fimmu.2022.944810 Text en Copyright © 2022 Fabozzi, De Vito, Gaspari, Leone, Delvecchio, Agolini, Galaverna, Mastronuzzi, Pagliara and De Ioris https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Fabozzi, Francesco
De Vito, Rita
Gaspari, Stefania
Leone, Fabrizio
Delvecchio, Maurizio
Agolini, Emanuele
Galaverna, Federica
Mastronuzzi, Angela
Pagliara, Daria
De Ioris, Maria Antonietta
Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title_full Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title_fullStr Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title_full_unstemmed Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title_short Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
title_sort case report: a new pathogenic variant of lrba deficiency with a complex phenotype and rosai-dorfman disease
topic Immunology
url 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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