Korean J Pediatr Hematol Oncol.  2003 Oct;10(2):282-286.

A Case of Allogeneic Stem Cell Transplantation for Chronic Granulomatous Disease

• Lee JH
• Lee MJ
• Choi ES
• Hong SJ
• Park CJ
• Seo JJ

Abstract

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency in children caused by an abnormal function of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in the phagocytic cells, which results in an increased susceptibility to severe bacterial and fungal infections. Prophylactic trimethoprim-sulfamethoxazole improves medium-term survival, but cannot prevent inflammatory sequelae. It still shows high morbidity and mortality. Bone marrow transplantation (BMT) is currently the only curative treatment for CGD. We report on a 29-month-old boy with CGD who was successfully treated with allogeneic BMT from an HLA-identical unrelated donors following a conditioning regimen consisting of busulfan and cyclophosphamide. One year after post-transplantation, the boy is in excellent clinical and hematological condition with complete chimerism and normal nitroblue tetrazolium (NBT) test.

Keyword

Bone marrow transplantation; Chronic granulomatous disease; Children

MeSH Terms

Bone Marrow Transplantation
Busulfan
Child
Child, Preschool
Chimerism
Cyclophosphamide
Granulomatous Disease, Chronic*
Humans
Male
Mortality
NADP
Nitroblue Tetrazolium
Oxidoreductases
Phagocytes
Stem Cell Transplantation*
Stem Cells*
Trimethoprim, Sulfamethoxazole Drug Combination
Unrelated Donors
Busulfan
Cyclophosphamide
NADP
Nitroblue Tetrazolium
Oxidoreductases