EBV-associated lymphoproliferative (PTLD-like) disease in SCID patient before HSCT

Summary

Introduction

Objective of this work was to demonstrate a case report of Epstein-Barr virus (EBV)-associated lymphoproliferative disease (LPD) in a patient with severe combined immune deficiency (SCID) before hematopoietic stem cell transplantation (HSCT).

Methods

The patient at the age of 3 months has been admitted to our hospital and was clinically examined. Detailed analysis of the data was carried out, and diagnosis made. Appropriate treatment targeted at underlying disease as well as the complications diagnosed.

Results

The diagnosis of SCID was confirmed at our clinic. CT scan and lung biopsy showed EBV-associated LPD of the lung. Treatment before HSCT included dexamethasone for cytoreduction, and rituximab administration. CT scan 2 weeks after starting the therapy showed partial reduction in size of the tumor mass. Transplantation of peripheral blood stem cells was the next therapeutic step. Moreover, infusion of CD45-RA depleted lymphocytes was performed on D+5 post-transplant, as an experimental antiviral therapy based on infusion of EBV-specific cells after HSCT in patients with posttransplant LPD (PTLD). At the day +180, a CT scan showed complete resolution of the pulmonary mass, along with immune reconstitution achieved by this time.

Conclusion

The present case demonstrates a rare opportunity for EBV-associated LPD (PTLD-like) developing in a SCID patient within first months of life before HSCT. LPD in SCID patient and PTLD may have similar mechanism, i.e., loss of T-cell control. Treatment options included rituximab, as well as cell therapy, i.e., transfer of active cellular immunity from donor to the recipient. Incidence of LPD in SCID patients is less common than LPD in patient with other primary immune deficiencies, due to high mortality rates among SCID patients before HSCT, or at following months. This case shows importance of correct diagnosis and differential diagnosis in a patient with combined immunodeficiency during his preparation for HSCT, despite of age and other multiple clinical problems.

Keywords

Lymphoproliferative disease, severe combined immunodeficiency, hematopoietic stem cell transplantation, Epstein-Barr virus, donor lymphocytes infusion, immune reconstitution.