NK abnormality Cause Consequences Reference
↓ number Congenital or acquired immunodeficiency (AIDS included) Higher incidence of cancers and infections (Whiteside & Herberman, 1994)
Fanconi’s anaemia (bone marrow impairment) Multiple infections (Orange, 2013)
Autosomal recessive SCID Multiple infections (Orange, 2013)
↓ activity Chediak-Higashi syndrome (abnormal lytic granule biogenesis) Increased risk for lymphoma (Orange, 2013; Whiteside & Herberman, 1994)
Griscelli syndrome type 2 (lytic granules do not detach from microtubules) Susceptibility to bacterial and herpesvirus infection (Orange, 2013)
Wiskott-Aldrich syndrome (defective actin organization at immune synapse) Multiple infections, susceptibility to herpes virus (Orange et al., 2002)
Hermansky-Pudlak syndrome (abnormal lytic granule biogenesis) Susceptibility to bacterial and herpesvirus infection (Badolato et al., 2012)
↑ number or ↑ activity unknown Recurrent spontaneous abortion (Perricone et al., 2007)
Acute large granular lymphocyte proliferation Aggressive leukaemia/lymphoma (Whiteside & Herberman, 1994)
Chronic NK cell lymphocytosis Vasculitis, arthritis and peripheral neuropathy (Fogel, Yokoyama & French, 2013)