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.
Fabozzi, F., De Vito, R., Gaspari, S., Leone, F., Delvecchio, M., Agolini, E., Galaverna, F., Mastronuzzi, A., Pagliara, D., De Ioris, M. A., Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease, <<FRONTIERS IN IMMUNOLOGY>>, 2022; 13 (13): 1-5. [doi:10.3389/fimmu.2022.944810] [https://hdl.handle.net/10807/330102]
Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
Mastronuzzi, AngelaWriting – Review & Editing
;
2022
Abstract
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.
| File | Dimensione | Formato | |
|---|---|---|---|
|
fimmu-13-944810.pdf
accesso aperto
Tipologia file ?:
Versione Editoriale (PDF)
Licenza:
Creative commons
Dimensione
5.62 MB
Formato
Adobe PDF
|
5.62 MB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
