Claudia Walliser, Martin Wist, Elisabeth Hermkes, Yuan Zhou, Anja Schade, Jennifer Haas, Julia Deinzer, Laurent Désiré, Shawn S C Li, Stephan Stilgenbauer, Joshua D Milner, Peter Gierschik
Depending on its occurrence in the germline or somatic context, a single point mutation, S707Y, of phospholipase C-γ2 (PLCγ2 ) gives rise to two distinct human disease states: acquired resistance of chronic lymphocytic leukemia cells (CLL) to inhibitors of Brutons´s tyrosine kinase (Btk) and dominantly inherited autoinflammation and PLCγ2 -associated antibody deficiency and immune dysregulation, APLAID, respectively. The functional relationships of the PLCγ2 S707Y mutation to other PLCG2 mutations causing (i) Btk inhibitor resistance of CLL cells and (ii) the APLAID-related human disease PLCγ2 -associated antibody deficiency and immune dysregulation, PLAID, revealing different clinical characteristics including cold-induced urticaria, respectively, are currently incompletely understood...
September 28, 2018: Oncotarget