Nature 284, 553 - 555 (10 April 1980); doi:10.1038/284553a0

A new immunodeficiency disorder in humans involving NK cells

John C. Roder^*§, Tina Haliotis^*, Margareta Klein^*, Stefan Korec^†, James R. Jett^†, John Ortaldo^†, Ronald B. Heberman^†, Paul Katz^‡ & Anthony S. Fauci^‡

^*Department of Microbiology and Immunology, Queen's University, Kingston, Ontario, Canada K7L 3N6 and Department of Zoology, University College, London WC1E 6JJ UK
^†Laboratory of Immunodiagnosis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
^‡Laboratory of Clinical Investigation, National Institutes of Health, Bethesda, Maryland
^§To whom correspondence should be addressed.

Immunodeficiency disorders have provided much information on the development and interaction of the various B and T lymphoid components in the immune system of man. As the lymphoid system becomes increasingly divided into functional subsets of cells it will be important to find immunodeficiencies affecting newly discovered cell types. Natural killer (NK) cells are a recently described but ill-defined subpopulation of lymphocytes which is thought to play an important part in surveillance against tumour development¹. Mice homozygous for the beige gene were found to have a selective deficiency in NK function² and were more susceptible to transplantation of syngeneic tumours as predicted^3,26. We report here that patients carrying the analogous, autosomal recessive Chediak-Higashi (CH) gene have a profound defect in their ability to spontaneously lyse various tumour cells in vitro by either antibody-dependent or independent mechanisms. Since other cell-mediated cytolytic functions were relatively normal, these results suggest that the beige or Chediak-Higashi gene in both man and mouse controls NK function.

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