Cellular and Molecular Life Sciences

, 68:3479

Insights into NK cell biology from human genetics and disease associations

Authors

  • Stephanie M. Wood
    • Department of Medicine, Center for Infectious Medicine, Karolinska InstitutetKarolinska University Hospital Huddinge
  • Hans-Gustaf Ljunggren
    • Department of Medicine, Center for Infectious Medicine, Karolinska InstitutetKarolinska University Hospital Huddinge
    • Department of Medicine, Center for Infectious Medicine, Karolinska InstitutetKarolinska University Hospital Huddinge
Multi-author review

DOI: 10.1007/s00018-011-0799-y

Cite this article as:
Wood, S.M., Ljunggren, H. & Bryceson, Y.T. Cell. Mol. Life Sci. (2011) 68: 3479. doi:10.1007/s00018-011-0799-y

Abstract

Rare human primary immunodeficiency disorders with extreme susceptibility to infections in infancy have provided important insights into immune function. Increasingly, however, primary immunodeficiencies are also recognized as a cause of other more common, often discrete, infectious susceptibilities. In a wider context, loss-of-function mutations in immune genes may also cause disorders of immune regulation and predispose to cancer. Here, we review the associations between human diseases and mutations in genetic elements affecting natural killer (NK) cell development and function. Although many such genetic aberrations significantly reduce NK cell numbers or severely impair NK cell responses, inferences regarding the role of NK cells in disease are confounded by the fact that most mutations also affect the development or function of other cell types. Still, data suggest an important role for NK cells in diseases ranging from classical immunodeficiency syndromes with susceptibility to viruses and other intracellular pathogens to cancer, autoimmunity, and hypersensitivity reactions.

Keywords

Natural killer cellsPrimary immunodeficiencyCytotoxic lymphocytes

Copyright information

© Springer Basel AG 2011