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  • A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner.
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