Journal
CLINICAL IMMUNOLOGY
Volume 177, Issue -, Pages 29-42Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2015.11.004
Keywords
Natural killer cells; Natural killer cell biology; Natural killer cell deficiency; Primary immunodeficiency
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Funding
- Wenner-Gren Foundations
- European Research Council under the European Union's Seventh Framework Programme/ERC Grant [311335]
- Swedish Research Council
- Swedish Foundation for Strategic Research
- Wallenberg Foundation
- Swedish Cancer Foundation
- Swedish Childhood Cancer Foundation
- Stockholm County Council
- Histiocytosis Society
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Natural killer (NK) cells are innate immune cytotoxic effector cells well known for their role in antiviral immunity and tumor immunosurveillance. In parts, this knowledge stems from rare inherited immunodeficiency disorders in humans that abrogate NK cell function leading to immune impairments, most notably associated with a high susceptibility to viral infections. Phenotypically, these disorders range from deficiencies selectively affecting NK cells to complex general immune defects that affect NK cells but also other immune cell subsets. Moreover, deficiencies may be associated with reduced NK cell numbers or rather impair specific NK cell effector functions. In recent years, genetic defects underlying the various NK cell deficiencies have been uncovered and have triggered investigative efforts to decipher the molecular mechanisms underlying these disorders. Here we review the associations between inherited human diseases and NK cell development as well as function, with a particular focus on defects in NK cell exocytosis and cytotoxicity. Furthermore we outline how reports of diverse genetic defects have shaped our understanding of NK cell biology. (C) 2015 Published by Elsevier Inc.
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