Annelise Y. Mah-Som

2 months ago | digitalcommons.library.tmc.edu | Emily Mace |Justin Porter |Annelise Y. Mah-Som |Joshua B Alinger

Although most individuals effectively control herpesvirus infections, some suffer from severe and/or recurrent infections. A subset of these patients possess defects in NK cells, lymphocytes which recognize and lyse herpesvirus-infected cells; however, the genetic etiology is rarely diagnosed. PLCG2 encodes a signaling protein in NK cell and B cell signaling. Dominant-negative or gain-of-function variants in PLCG2 cause cold urticaria, antibody deficiency, and autoinflammation.