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

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

Frontiers in immunology（2022）

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摘要

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.

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关键词

LRBA deficiency,Rosai-Dorfman’s disease,autoimmunity,neonatal diabetes,primary immunodeficiencies

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