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Abstract
Chronic granulomatous disease is caused by a genetic defect in the oxidase of phagocytic cells which results in increased susceptibility to recurrent infections. Conventional treatment includes the use of antimicrobials and interpheron-gamma. This study was performed to assess the clinical efficacy of allogeneic bone marrow transplantation in definitively correcting the functional underlying defect of chronic granulomatous disease.
An 8-year-old boy with a rare type X-linked cytochrome b positive chronic granulomatous disease underwent allogeneic bone marrow transplantation after conditioning with busulfan and cyclophosphamide. The patient's HLA identical sister was marrow donor. The post-transplant outcome was uneventful. During the 9 year follow-up period the patient has been constantly free of infections, maintained an excellent clinical performance with full correction of the granulocyte functional defect.
This case confirms that allogeneic bone marrow transplantation is the only treatment capable to cure chronic granulomatous disease to those patients who cannot be optimally treated with conventional therapy.