Table 28.1.

Genetic mutation or aberrant expression of cytokines affecting NK cells leads to infection and autoimmunity in humans

Mutations	Patient phenotype	Immune phenotype	References
IL-2R/IL-15Rβ	NK−/− SCID phenotype	Pronounced reduction in NK cells	Alsharifi et al. (2006)
Not known	Herpes virus infection	Absence of CD16+ NK cells	Armstrong et al. (2001)
TAP-deficiency	Chronic infection and systemic autoimmunity	Defective CD8+ T cell responses	Whitley (2002), Bellner et al. (2005)

SCID: combined severe immunodeficiency

TAP: transporter associated with antigen processing