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Chédiak-Higashi syndrome

Pronunciation: che'de-ak he-gah'she

Definition: a genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in young animals or during childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.

Synonym(s): Béguez César disease, Chédiak-Higashi disease, Chédiak-Steinbrinck-Higashi anomaly, Chédiak-Steinbrinck-Higashi syndrome

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.