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Chediak-Higashi syndrome

Chédiak-Higashi syndrome is a rare childhood autosomal recessive disorder that affects multiple systems of the body, which arises from a mutation that causes silvery hair. It is a disease with impaired leukocyte function due to failure of phagolysosome formation – As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes. In addition secretion of lytic secretory granules by cytotoxic T cells is also affected. The disease is characterised by large lysosome vesicles in phagocytes who have poor bactericidal function leading susceptibility to infections, abnormalities in nuclear structure of leukocytes, anaemia, hepatomegaly.

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An updated bibliography of the Chediak-Higashi syndrome of man and animals An updated bibliography of the Chediak-Higashi syndrome of man and animals, 1987

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