This syndrome is inherited in an autosomal recessive fashion.
Mutations in the LYST gene lead to impaired function of lysosomes throughout the body, and gives rise to abnormal lysosomal size and structure. As normal cell function is dysfunctional, immune cells are unable to appropriately respond to bacteria and other foreign invaders.
Chediak-Higashi syndrome is caused by a defect in microtubule polymerization, leading to decreased phagocytosis and impaired lysosome degranulation within phagosomes and defective melanocytes.
Defective microtubular function leads to a decrease in phagocytosis and impaired lysosome degranulation within phagosomes which rely on microtubular polymerization. This defect leads to recurrent pyogenic infections, often caused by Staph aureus and Streptococci species.
Defective phagocytosis and impaired lysosome degranulation within the phagocytes leads to recurrent pyogenic infections that are often severe and can be life threatening.
Individuals with Chediak-Higashi suffer from recurrent pyogenic infections, often caused by Staph aureus and Streptococci species.
Individuals with Chediak-Higashi syndrome commonly have partial albinism and are described to have light skin and silvery hair due to defective melanization of melanosomes. In the melanocytes, which are the cells responsible for pigmentation, autophagocytosis of melanosomes occurs.
Peripheral neuropathy is a general term that describes damage to the nerves of the peripheral nervous system. Symptoms can include abnormal sensory function and motor symptoms. The mechanism of peripheral neuropathy in Chediak-Higashi syndrome has not been elucidated but axonal and demyelinating peripheral neuropathy have been noted.
Typically patients suffer from multiple infections before they enter an accelerated phase, characterized by fever, lymphadenopathy, jaundice, and widespread lymphohistiocytic organ infiltrates. During this phase, patients also develop pancytopenia in the form of anemia, neutropenia and thrombocytopenia.
Diagnosis of Chediak-Higashi syndrome is made through the presence of eosinophilic peroxidase-positive, abnormally large "giant" granules in granulocytes and platelets.
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