Chédiak–Higashi syndrome

Ghaffari, Javad; Rezaee, Seyed Abdolrahim; Gharagozlou, Mohhammad

Volume 1, Issue 2 (5-2013) J. Pediatr. Rev 2013, 1(2): 80-87 | Back to browse issues page

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Ghaffari J, Rezaee S A, Gharagozlou M. Chédiak–Higashi syndrome . J. Pediatr. Rev 2013; 1 (2) :80-87
URL: http://jpr.mazums.ac.ir/article-1-49-en.html

Chédiak–Higashi syndrome

Javad Ghaffari¹

, Seyed Abdolrahim Rezaee ^*

², Mohhammad Gharagozlou³

1- Mazandaran University of Medical Sciences, Sari, Iran
2- Mashhad University of Medical Sciences , RezaeeR@mums.ac.ir
3- Tehran University of Medical Sciences, Shariati Hospital, Tehran, Iran

Abstract: (21798 Views)

Chédiak-Higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. The affected subjects have light-colored hair, vision problems, blood clotting (coagulation) abnormalities and in adulthood varying neurologic disorders. Recurrent infections, particularly viral infection with other disorders in childhood are usually life threatening. It has demonstrated mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. The current therapeutic options are: Antibiotics, chemotherapy and bone marrow transplantation. This review will discuss the clinical and molecular aspects of this syndrome for better understanding of the factors that may cause abnormalities.

Keywords: Chediak-Higashi syndrome, Albinism, Immunodeficiency

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Type of Study: Narrative Review |
Received: 2013/05/19 | Accepted: 2013/09/16 | Published: 2013/09/16

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