Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

MC Mizesko, PP Banerjee, L Monaco-Shawver… - Journal of allergy and …, 2013 - Elsevier
BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) mutations are responsible for a rare
primary combined immunodeficiency syndrome associated with severe cutaneous viral
infections, increased IgE levels, autoimmunity, and malignancy. Natural killer (NK) cells are
essential for tumor surveillance and defense against virally infected cells. NK cell function
relies on Wiskott-Aldrich syndrome protein for filamentous actin (F-actin) accumulation at the
lytic NK cell immunologic synapse. DOCK8 activates cell division cycle 42, which, together …