Chediak-Higashi Syndrome
  • 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 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. Syn: Chédiak-Steinbrinck- Higashi anomaly, Béguez César disease, Chédiak-Higashi disease, Chédiak-Steinbrinck-Higashi syndrome
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