Abstract
An 18-year-old boy with chronic granulomatous disease (CGD) underwent allogeneic BMT from his 15-year-old HLA-identical sister who was a carrier of CGD. Severe, recurrent pyogenic infections during childhood led to growth stunting. A nonfunctional esophagus necessitated total dependence on parenteral hyperalimentation after a failed gastrostomy. He was prepared for BMT with cyclosphosphamide 120 mg/kg followed by total body irradiation (333 rad x 3). The intra-transplant course was uneventful and hematopoietic reconstitution was prompt. Repeated analyses of bone marrow chromosomes disclosed only female karyotypes. By two months post BMT neutrophil function (nitroblue tetrazolium dye reduction, bactericidal function and superoxide anion and H2O2 production) had become equivalent to his heterozygote donor. He remained free of infection until 7 months post BMT when he developed idiopathic interstitial pneumonitis that resolved during therapy with erythromycin, trimethoprim-sulfa and steroids. Two weeks later, he developed massive upper gastrointestinal bleeding leading to acute renal failure and death. Three weeks earlier his neutrophil function had been slightly better than his donor. This case illustrates that BMT from a heterozygous donor can be used to reconstitute neutrophil function in patients with CGD.
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