Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

@article{Feldmann2003Munc134IE,
  title={Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)},
  author={J{\'e}r{\^o}me Feldmann and Isabelle Callebaut and Graça Raposo and St{\'e}phanie Certain and Delphine Bacq and C{\'e}cile Dumont and Nathalie Farpour Lambert and Marie Ouach{\'e}e-Chardin and Ga{\"e}lle Ch{\'e}deville and Hannah Tamary and V{\'e}ronique Minard-Colin and Etienne Vilmer and St{\'e}phane Blanche and Françoise le Deist and Alain Fischer and Genevi{\'e}ve de Saint Basile},
  journal={Cell},
  year={2003},
  volume={115},
  pages={461-473}
}
Secretion of cytolytic granules content at the immunological synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Defective cytotoxicity characterizes a genetically heterogeneous condition named familial hemophagocytic lymphohistiocytosis (FHL), which can be associated with perforin deficiency. The… CONTINUE READING
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