Chediak-higashi syndrome

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that affects multiple systems of the body. Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules are seen in peripheral leukocytes and many other cell types.Stem cell transplantation has been found successfull in some patients. Patients die usually from pyogenic infection, hemorrhage or complications of the accelerated phase.