Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
oleh: Francesco Fabozzi, Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2022-12-01 |
Deskripsi
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.