Pharmaceutical - Medical Devices

Mutation causes defective Natural Killer cells

 

Natural Killer (NK) cells defend the body against infectious diseases and cancer by recognizing and killing stressed or infected cells and patients with NK deficiencies are susceptible to severe viral infections. In this issue of the Journal of Clinical Investigation, researchers at Baylor College of Medicine report on a patient with an NK cell deficiency caused by a mutation in CD16, which codes for a protein on the surface of NK cells that recognizes antibodies. To determine the exact role of CD16 in NK cell cytotoxicity, Jordan Orange and colleagues studied the effect of mutant CD16 in a human NK cell line. The mutant CD16 was unable to interact with another NK cell protein, CD2, which is required for cytotoxic activity in NK cells. Patients carrying this mutation were highly susceptible to viral infection. This study identifies a potential cellular mechanism that underlies human congenital immunodeficiency.

TITLE:

Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

AUTHOR CONTACT:

Jordan Orange

Baylor College of Medicine, Houston, TX, USA

Phone: 832-824-1319; E-mail: orange@bcm.edu

View this article at: http://www.jci.org/articles/view/64837?key=c3d74ae1bcfb3e9124da