Unmanipulated Haploidentical Stem Cell Transplantation Outcome in a Pediatric Patient With CD27 Deficiency and EBV-Induced Diffuse Large B-Cell Lymphoma With Primary CNS Involvement.

BACKGROUND

CD27 deficiency is a rare primary immunodeficiency associated with severe Epstein-Barr virus (EBV)-related complications, including lymphoma.

OBSERVATIONS: We report a pediatric patient with CD27 deficiency who developed EBV-associated diffuse large B-cell lymphoma with primary CNS involvement and early relapse. The patient underwent unmanipulated haploidentical stem cell transplantation using post-transplant cyclophosphamide. Engraftment was successful, graft-versus-host disease was controlled, and full donor chimerism was achieved.

CONCLUSIONS

After 40 months, the patient remains free of GVHD, PID, and lymphoma relapse, demonstrating successful lymphoma control and correction of the underlying immunodeficiency, thereby highlighting the feasibility of haploidentical HSCT in these patients.