bi-allelic mutations in stxbp2 reveal a complementary role for stxbp1 in cytotoxic lymphocyte killing

bi-allelic mutations in stxbp2 reveal a complementary role for stxbp1 in cytotoxic lymphocyte killing

;Jamie A. Lopez;Jamie A. Lopez;Tahereh Noori;Adrian Minson;Lu Li Jovanoska;Kevin Thia;Michael S. Hildebrand;Hedieh Akhlaghi;Phillip K. Darcy;Phillip K. Darcy;Michael H. Kershaw;Michael H. Kershaw;Natasha J. Brown;Andrew Grigg;Joseph A. Trapani;Joseph A. Trapani;Ilia Voskoboinik;Ilia Voskoboinik
sudebno-meditsinskaia ekspertiza 2018 Vol. 9 pp. -
163
lopez2018frontiersbi-allelic

Abstract

The ability of cytotoxic lymphocytes (CL) to eliminate virus-infected or cancerous target cells through the granule exocytosis death pathway is critical to immune homeostasis. Congenital loss of CL function due to bi-allelic mutations in PRF1, UNC13D, STX11, or STXBP2 leads to a potentially fatal immune dysregulation, familial haemophagocytic lymphohistiocytosis (FHL). This occurs due to the failure of CLs to release functional pore-forming protein perforin and, therefore, inability to kill the target cell. Bi-allelic mutations in partner proteins STXBP2 or STX11 impair CL cytotoxicity due to failed docking/fusion of cytotoxic secretory granules with the plasma membrane. One unique feature of STXBP2- and STX11-deficient patient CLs is that their short-term in vitro treatment with a low concentration of IL-2 partially or completely restores natural killer (NK) cell degranulation and cytotoxicity, suggesting the existence of a secondary, yet unknown, pathway for secretory granule exocytosis. In the current report, we studied NK and T-cell function in an individual with late presentation of FHL due to hypomorphic bi-allelic mutations in STXBP2. Intriguingly, in addition to the expected alterations in the STXBP2 and STX11 proteins, we also observed a concomitant significant reduction in the expression of homologous STXBP1 protein and its partner STX1, which had never been implicated in CL function. Further analysis of human NK and T cells demonstrated a functional role for the STXBP1/STX1 axis in NK and CD8+ T-cell cytotoxicity, where it appears to be responsible for as much as 50% of their cytotoxic activity. This discovery suggests a unique and previously unappreciated interplay between STXBP/Munc proteins regulating the same essential granule exocytosis pathway.

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10.3389/fimmu.2018.00529
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