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Chediak-Higashi syndrome

Kaplan, Jerry, De Domenico, Ivana, Ward, Diane McVey·2008·Current Opinion in Hematology

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Abstract

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.

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See all 359

Authors: Kaplan, J., De Domenico, I., & Ward, D. M.
Venue: Current Opinion in Hematology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2008-01
Volume: 15
Issue: 1
Pages: 22-29
ISSN: 1065-6251 (ISSN-L)
DOI: 10.1097/moh.0b013e3282f2bcce
OpenAlex: W2164046385
Cited by: 359
References: 64
FWCI: 9.08
Type: journal article
Language: en
Open access: closed

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Chediak-Higashi syndrome

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