The Murine Chediak-Higashi Mutation and Other Murine Pigmentation Mutations

  • E. J. Brandt
  • R. T. Swank
  • E. K. Novak


Human Chediak-Higashi syndrome (CHS) is a rare, recessively inherited disease with multiple clinical symptoms including increased susceptibility to infection, diluted pigmentation, and giant lysosomes in many tissues (Blume and Wolff, 1972). Other defects, including decreased fusion of lysosomes with phagosomes (Root et al., 1972; Stossel et al., 1912), decreased bactericidal capacity (Root et al, 1972), decreased chemotaxis (Clark and Kimball, 1971), platelet storage disease (Buchanan and Handin, 1976; G. J. Boxer et al., 1977), and defective natural killer cell function (Roder, 1979; Roder and Duwe, 1979; Roder et al., 1979), have more recently been described. Homozygous carriers of the disease suffer from repeated attacks by infectious organisms, often enter an advanced lymphoproliferative phase, and as a result rarely survive their teen years.


Lysosomal Enzyme Killer Whale Mast Cell Granule Glucuronidase Activity Beige Mouse 
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Copyright information

© Plenum Press, New York 1981

Authors and Affiliations

  • E. J. Brandt
    • 1
  • R. T. Swank
    • 2
  • E. K. Novak
    • 2
  1. 1.Corporate Research LaboratoriesMonsanto CompanySt. LouisUSA
  2. 2.Molecular Biology DepartmentRoswell Park Memorial InstituteBuffaloUSA

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