Tamara Kögl, Hsin-Fang Chang, Julian Staniek, Samuel C C Chiang, Gudrun Thoulass, Jessica Lao, Kristoffer Weißert, Viviane Dettmer-Monaco, Kerstin Geiger, Paul T Manna, Vivien Beziat, Mana Momenilandi, Szu-Min Tu, Selina J Keppler, Varsha Pattu, Philipp Wolf, Laurence Kupferschmid, Stefan Tholen, Laura E Covill, Karolina Ebert, Tobias Straub, Miriam Groß, Ruth Gather, Helena Engel, Ulrich Salzer, Christoph Schell, Sarah Maier, Kai Lehmberg, Tatjana I Cornu, Hanspeter Pircher, Mohammad Shahrooei, Nima Parvaneh, Roland Elling, Marta Rizzi, Yenan T Bryceson, Stephan Ehl, Peter Aichele, Sandra Ammann
SYNTAXIN-11 (STX11) is a SNARE protein that mediates the fusion of cytotoxic granules with the plasma membrane at the immunological synapses of CD8 T or NK cells. Autosomal recessive inheritance of deleterious STX11 variants impairs cytotoxic granule exocytosis, causing familial hemophagocytic lymphohistiocytosis type 4 (FHL-4). In several FHL-4 patients, we also observed hypogammaglobulinemia, elevated frequencies of naive B cells, and increased double-negative DN2:DN1 B cell ratios, indicating a hitherto unrecognized role of STX11 in humoral immunity...
July 1, 2024: Journal of Experimental Medicine