Candan Islamoglu, Turkey
Ankara University Faculty of Medicine Pediatric Allergy and ImmunologyPresenter of 1 Presentation
HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PATIENTS WITH CD70 DEFICIENCY
Abstract
Background and Aims
Primary EBV infection is mostly seen as an asymptomatic infection in childhood. It may cause self-limiting infectious mononucleosis in adolescent period or adulthood. However, some primary immunodeficiency types have a selective predisposition for EBV-related diseases.
CD27-CD70 interaction is required for T cell expansion and survival; germinal center formation, B cell activation, antibody production and NK cell function. In CD27 or CD70 deficiency, EBV-associated lymphoproliferative disease, lymphoma and/or hypogammaglobulinemia are observed.
Methods
In this study, we present the features and follow up of the first 3 cases who underwent hematopoietic stem cell transplantation.
Results
3 case form 2 families. All are male. Age of lymphoma diagnosis were 2,5; 3 and13 years old respectively. All of them have consanguinity. In laboratory all of them have hypogammaglobulinemia and EBV PCR positivity. Two of them are diagnosed with Hodgkin lymphoma, the third one with non-Hodgkin Lymphoma. All of them have a history of relapse. Two of them are transplanted from a MUD, one from MSD. Treosulfan, fludarabine in combination with Rituximab (± ATG ) is used for conditioning. All patients engrafted following HSCT. All of them completed 6 months after HSCT. However complicated with serious GVHD even if transplanted from a MSD.
* This study was supported under TÜBİTAK 1003 Project no 315S125.
Conclusions
CD70 deficiency should be considered in patients with parental consanguinity and relapsing EBV associated malign lymphoma. Allogeneic hematopoietic stem cell transplantation seems to be only curative option; but further evaluation is needed.