CD45RA+ Depleted Lymphocyte Infusion for Treatment of Refractory Cytomegalovirus Disease in Complete DiGeorge Syndrome: A Case Report

Complete DiGeorge syndrome (cDGS) refers to DGS with profound T cell deficiency.Herein, we present the case of an infant with cDGS suffering from refractory cytomegalovirus (CMV) infection and who was treated with CD45RA+ depleted lymphocyte infusion.The patient was diagnosed with cDGS by fluorescence in situ hybridization which verified 22q11.2deletion and as well as by the observed profound T cell deficiency (CD3+ T cells 69/L, CD4+ T cells 7/L).On the 45th day of age, CMV viremia was first detected with a plasma viral load (VL) of 120,000 IU/mL.Ganciclovir treatment effectively reduced VL post 56 days of treatment; however, VL subsequently rebounded.A CMV UL97 phosphotransferase M460V mutation conferring ganciclovir resistance emerged and foscarnet was incorporated.Despite this, high titers of CMV viremia (VL 2,820,000 IU/mL) and CMV retinitis were complicated.To restore T cell immunity and treat refractory CMV infection, CD45RA+ depleted CMV-specific lymphocytes from the patient's father were infused twice on the 196th and 207th days after birth.After receiving the second infusion, a decline in CMV VL was observed, with a decrease to 87,100 IU/mL by the tenth day following infusion, despite the failure in maintaining T cell increase.The patient died of Pneumocystis jirovecii pneumonia and Elizabethkingia meningoseptica sepsis on the 222nd day after birth.CD45RA+ depleted lymphocyte infusion may be a therapeutic option for refractory CMV disease in cDGS patients.