Chediak-Higashi syndrome: hematopoietic chimerism defect corrects genetic

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