Giuliana Giardino, Vittoria Lanni, Massimo Mascolo, Daniela Russo, Emilia Cirillo, Roberta Romano, Francesca Cillo, Laura Grilli, Maria Rosaria Prencipe, Adriana Iuliano, Giovanni Uccello, Carmela De Fusco, Giuseppe Menna, Giulia Scalia, Giuseppe Portella, Claudio Pignata
BACKGROUND AND AIMS: X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A , 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...
2024: Frontiers in Immunology