AUTHOR=Fabozzi Francesco , De Vito Rita , Gaspari Stefania , Leone Fabrizio , Delvecchio Maurizio , Agolini Emanuele , Galaverna Federica , Mastronuzzi Angela , Pagliara Daria , De Ioris Maria Antonietta 

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

JOURNAL=Frontiers in Immunology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2022.944810

DOI=10.3389/fimmu.2022.944810

ISSN=1664-3224

ABSTRACT=<p>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.</p>