Chédiak–Higashi syndrome
Publish place: Journal of Pediatrics Review، Vol: 1، Issue: 2
Publish Year: 1392
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_JPRE-1-2_008
تاریخ نمایه سازی: 9 آذر 1402
Abstract:
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 CHS۱/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.
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Authors
Javad Ghaffari
Mazandaran University of Medical Sciences, Sari, Iran
Seyed Abdolrahim Rezaee
Mashhad University of Medical Sciences
Mohhammad Gharagozlou
Tehran University of Medical Sciences, Shariati Hospital, Tehran, Iran