Deniz Cagdas, Turkey
Hacettepe University Faculty of Medicine Department of Pediatrics, Division of ImmunolgyPresenter of 2 Presentations
SUCCESSFUL BONE MARROW TRANSPLANTATION FROM HLA 9/10 MATCHED RELATIVE AFTER MYELOABLATIVE CONDITIONING IN A PATIENT WITH PRKDC DEFECT.
Abstract
Background and Aims
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.
Methods
Clinical and transplantation characteristics of the patient was recorded.
Results
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.
Conclusions
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.
SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION IN A CHILD WITH CD40 DEFICIENCY
Abstract
Background and Aims
Haematopoietic stem cell transplantation (HSCT) has been shown to be a curative option in patient with CD40 deficiency, however, few reported cases of successful HSCT have been published in the medical literature. Here we report a patient with CD40 deficiency who underwent HSCT after myeloablative conditioning.
Methods
Clinical and transplantation charactersitics of the patient was recorded.
Results
3.8 years old boy referred to our hospital with the history of recurrent pulmonary infection for the investigation of immunodefciency and diagnosis of Hyper-IgM syndrome was made with molecular testing. At the age of 6.3 years patient undewent HSCT from his unaffected HLA-genotypeidentical sibling selected using preimplantation genetic diagnosis. The conditioning regimen included busulfan (19.6 mg/kg) and fludarabine (160 mg/m2). Cyclosporine A and methotrexate (day +1, day +3, day +6) were used as graft versus host disease (GVHD) prophylaxis. Bone marrow and cord blood were used as a stem cell source. Neutrophil and platelet engraftment were achieved on day +19 and +22, respectively. During posttransplant period acute/chronic GVHD, venoocclusive disease were not observed. CMV reactivation developed and treated with gancyclovir. Chimerism analysis showed %98 donor profile at the third month and 95% at the sixth month of HSCT. Eights months after HSCT patient in good clinical condition and had no clinical finding associated with CD40 deficiency.
Conclusions
HSCT with myeloablative conditioning in the early stage of the disease and an HLA-matched sibling donor is effective at curing the disease with fewer complications although more experience is required to assess clinical outcome.