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

Autor: Fabozzi, Francesco, De Vito, Rita, Gaspari, Stefania, Leone, Fabrizio, Delvecchio, Maurizio, Agolini, Emanuele, Galaverna, Federica, Mastronuzzi, Angela, Pagliara, Daria, De Ioris, Maria Antonietta
Předmět:
Zdroj: Frontiers in Immunology; 12/9/2022, Vol. 13, p1-5, 5p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index