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.
Trigg
M E
ME
Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Schugar
R
R
D016026:Bone Marrow Transplantation; D002609:Chediak-Higashi Syndrome / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant; D009504:Neutrophils; D009679:Nuclear Family; D018183:Transplantation Chimera; D014184:Transplantation, Homologous; D016896:Treatment Outcome