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Chediak-Higashi syndrome

Kaplan, Jerry; De Domenico, Ivana; Ward, Diane McVey

Current Opinion in Hematology: January 2008 - Volume 15 - Issue 1 - p 22–29
doi: 10.1097/MOH.0b013e3282f2bcce
Myeloid biology: Edited by Nancy Berliner

Purpose of review: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10 years ago and homologous CHS1/LYST genes are present in all eukaryotes. This review will discuss the advances made in understanding the clinical aspects of the syndrome and the function of CHS1/LYST/Beige.

Recent findings: Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. Over the past decade the CHS1/LYST family of proteins has been analyzed using model organisms, two-hybrid analysis, overexpression phenotypes and dominant negatives. These studies suggest that the CHS1/LYST protein is involved in either vesicle fusion or fission.

Summary: Although CHS is a rare disease, the Chediak-like family of proteins is providing insight into the regulation of vesicle trafficking. Understanding the basic mechanisms that govern vesicle trafficking will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA

Correspondence to Diane McVey Ward, Department of Pathology, University of Utah School of Medicine, 30 N. 1900 E. Salt Lake City, UT 84132, USA Tel: +1 801 581 4967; fax: +1 801 581 6001; e-mail: diane.mcveyward@path.utah.edu

© 2008 Lippincott Williams & Wilkins, Inc.