Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease.

A 16-month-old Aboriginal boy was diagnosed with chronic granulomatous disease (CGD) when he presented with frequent significant infections from the age of 12 months. BMT was performed from a HLA-matched sibling after conditioning with busulphan, cyclophosphamide, etoposide and antithymocyte globulin. A small bowel obstruction developed in the first week and settled with conservative treatment. VOD occurred in the third week, resolving after treatment with tissue plasminogen activator. Sustained engraftment has occurred, as indicated by return of the nitroblue tetrazolium (NBT) test to normal when performed at 11 weeks and 7 months post-BMT. No further infections have occurred. BMT can be successfully performed for CGD. Complications occurring post-BMT may be related to the underlying disease (CGD). BMT remains an attractive option for CGD in children who have a matched sibling donor.