Natural killer cell deficiency

J Allergy Clin Immunol. 2013 Sep;132(3):515-525. doi: 10.1016/j.jaci.2013.07.020.


Natural killer (NK) cells are part of the innate immune defense against infection and cancer and are especially useful in combating certain viral pathogens. The utility of NK cells in human health has been underscored by a growing number of persons who are deficient in NK cells and/or their functions. This can be in the context of a broader genetically defined congenital immunodeficiency, of which there are more than 40 presently known to impair NK cells. However, the abnormality of NK cells in certain cases represents the majority immunologic defect. In aggregate, these conditions are termed NK cell deficiency. Recent advances have added clarity to this diagnosis and identified defects in 3 genes that can cause NK cell deficiency, as well as some of the underlying biology. Appropriate consideration of these diagnoses and patients raises the potential for rational therapeutic options and further innovation.

Keywords: ADCC; Antibody-dependent cell-mediated cytotoxicity; CMV; CNKD; CTL; Classical natural killer cell deficiency; Cytomegalovirus; Cytotoxic T lymphocyte; DOCK8; Dedicator of cytokinesis 8; FNKD; Functional natural killer cell deficiency; HPV; HSV; Herpes simplex virus; Human papillomavirus; MCM; Minichromosome maintenance; NK; NKD; Natural killer; Natural killer cell deficiency; Natural killer cells; PID; Primary immunodeficiency; VZV; Varicella zoster virus; cytotoxicity; innate immunity; natural killer cell deficiency; primary immunodeficiency.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Disease Susceptibility
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Killer Cells, Natural / immunology*
  • Virus Diseases / immunology