Chediak-Higashi syndrome
Definition
Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin.
Causes
Chediak-Higashi is inherited, which means it is passed down through families. It is an autosomal recessive disease.
Mutations have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is in special granules present in skin pigment cells and certain white blood cells. For example, a granule that contains melanin is not made properly in skin, resulting in decreased skin pigmentation. A defect in granules found in certain types of white blood cells causes immune system problems.
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