PMID: 5908967Jan 7, 1966

Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles

Science
D B WindhorstR A Good

Abstract

In the Chediak-Higashi syndrome, an anomalous hypopigmentation is associated with large lysosomal granules in the blood leukocytes. Since the inheritance pattern is that of an autosomal recessive trait, we postulated a common mechanism for these two primary features of the disease. Electron microscopy of melanocytes revealed that the pigmentary anomaly is indeed based on giant melanosomes. Since both types of granules, leukocytic and melanosomal, are characterized by limiting membranes, Chediak-Higashi disease may be a genetic disease of membranes.

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Related Concepts

Cytoplasmic Granules
Downy Hair
Leukocytes
Electron Microscopy
Schamberg Disease

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