Chédiak-Higashi syndrome: hematopoietic chimerism corrects genetic defect

Chediak-Higashi syndrome is a rare autosomal recessive disorder, primarily affecting neutrophils, and is often lethal by the third decade of life. Bone marrow transplantation is the only curative therapy currently available. This case describes a child undergoing a bone marrow transplant from a matched sibling donor, resulting in hematopoietic chimerism with only a small percentage of donor neutrophils found long term. The presence of a small percentage of donor neutrophils has resulted in normal development and no increased incidence of infections. Hematopoietic chimerism offers a cure with a potential reduction in the side-effects that result from marrow transplantation and the associated preparative therapies.