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-deficiency has never been reported so far.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research