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Chediak-Higashi syndrome is rare disease of the immune and nervous systems that involves by pale-colored hair, eyes, and skin.
Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents must pass the faulty gene to the child to show symptoms of the disease.
Defects have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is found in certain substances normally present in skin cells and certain white blood cells.
Boxer LA. Disorders of Phagocyte Function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.
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