Chediak-Higashi syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Chediak-Higashi syndrome. (Curr Opin Hematol. 2008 Jan;15(1):22-9.). Authors are Kaplan J De Domenico I Ward DM et al., from the Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA. 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.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.Understanding the basic mechanisms. will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes. To access the full abstract of the article, click here.