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.