Publications by authors named "Maria Rosaria Prencipe"
Background And Aims: X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of , encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas.
Methods: We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses.
Background: The phenotype of early embryonic fourth branchial arch defects encompasses a wide spectrum of clinical conditions including DiGeorge syndrome (DGS), velocardiofacial syndrome, and conotruncal anomaly face syndrome. The majority of the patients have a 22q11.2 deletion.
View Article and Find Full Text PDFArticle Synopsis
- Ataxia-Teleangiectasia (A-T) is a neurodegenerative disorder caused by mutations in the ATM gene, which primarily functions in DNA repair.
- Researchers studied autophagy processes in A-T and found an accumulation of autophagic vesicles but a decrease in lysosomes, suggesting issues with cellular clearance mechanisms.
- The study indicated that Betamethasone can enhance the degradation of SQSTM1, improving aspects of autophagy in A-T cells, despite the overall dysfunction observed in lysosomal fusion and autophagosome maturation.