Genetic Defects in Chediak–Higashi Syndrome and the beige Mouse

  title={Genetic Defects in Chediak–Higashi Syndrome and the beige Mouse},
  author={Richard A. Spritz},
  journal={Journal of Clinical Immunology},
Chediak–Higashi syndrome (CHS) is a rare, autosomal recessive, multisystem disorder in which severe immune deficits are accompanied by abnormalities of pigmentation, blood clotting, and neurologic function. There is no specific treatment, and without bone marrow transplantation, most patients succumb to frequent bacterial infections or to a lymphoproliferative syndrome that appears to result principally from lack of natural killer cell function. Disorders similar to human CHS occur in many… CONTINUE READING
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Zelickson AS, Good RA: Chediak-Higashi syndrome: Hereditary gigantism of cytoplasmic organelles

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  • Science 151:81-83,
  • 1966
Highly Influential
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