There are only a few cases who underwent hematopoietic stem cell transplantatişon (HSCT) for PRKDC defect in the literature. Here we report a patient with PRKDC defect who underwent HSCT after myeloablative conditioning.
Clinical and transplantation characteristics of the patient was recorded.
A two years old girl was admitted to our hospital for oral moniliais, recurrent pulmonary infections, intermittent diarrhea episodes and skin lesions and diagnosed with combined immunodefciency. During the follow-up PRKDC mutation was shown with molecular analysis. At the age of 4.8 years the patient undewent HSCT from his HLA 9/10 identical relative. The myeloablative conditioning regimen included busulfan (20.4 mg/kg) and fludarabine (160 mg/kg) and anti-thymocyte globulin (30 mg/kg). Cyclosporine A and methotrexate were used as graft versus host disease (GVHD) prophylaxis. Bone marrow (BM) was used as a stem cell source and number of CD34+ cells was 8.2x106/kg. Neutrophil and platelet engraftment were achieved on day +15 and +19 respectively. During the posttransplant period the patient developed steroid resistant grade III acute GVHD and treated with calcinuerin inbitors, mycophenolate mofetil, etanercept, mesenchymal stem cells and extracorporeal photopheresis. Chimerism analysis showed 99% donor profile at the first month and 98% at the first year of HSCT. 15 months after HSCT the patient has no clinical findings associated with CD40 deficiency and GVHD is improved.
HSCT with myeloablative conditioning is effective in PRKDC defect even from an HLA 9/10 matched relative donor although more experience is required to assess clinical outcome.