Human PLCG2 Haploinsufficiency Results in a Novel NK Cell Immunodeficiency

Dominant-negative and gain-of-function variants in PLCG2 have been previously reported to cause cold urticaria, antibody deficiency, and autoinflammation. PLCG2 haploinsufficiency is a distinct and novel immunodeficiency leading to NK cell dysfunction and is associated with severe and/or recurrent herpesvirus infections.

Source: Journal of Allergy and Clinical Immunology - September 12, 2023 Category: Allergy & Immunology Authors: Joshua B. Alinger, Emily M. Mace, Justin.R. Porter, Annelise Y. Mah-Som, Allyssa L. Daugherty, Stephanie Li, Allison A. Throm, Jeanette T. Pingel, Nermina Saucier, Albert Yao, Ivan K. Chinn, James R. Lupski, Mohammad Ehlayel, Michael Keller, Greg R. Bowma Source Type: research