Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)
Jérôme Feldmann,Isabelle Callebaut,Graça Raposo,Stéphanie Certain,Delphine Bacq,Cécile Dumont,Nathalie Lambert,Marie Ouachée-Chardin,Gaëlle Chédeville,Hannah Tamary,Véronique Minard-Colin,Etienne Vilmer,Stéphane Blanche,Françoise Le Deist,Alain Fischer,Geneviève de Saint Basile +15 more
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TL;DR: In this article, the locus of a perforin (+) FHL subtype (FHL3), observed in 10 patients, was mapped to 17q25. This region contains hMunc13-4, a member of the Munc13 family of proteins involved in vesicle priming.
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About: This article is published in Cell. The article was published on 14 Nov 2003. and is currently open access. The article focuses on the topics: Cytolytic granule & Perforin.
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Citations
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.
Jan-Inge Henter,AnnaCarin Horne,Maurizio Aricò,R. Maarten Egeler,Alexandra H. Filipovich,Shinsaku Imashuku,Stephan Ladisch,Kenneth L. McClain,David Webb,Jacek Winiarski,Gritta Janka +10 more
TL;DR: HLH‐2004 chemo‐immunotherapy includes etoposide, dexamethasone, cyclosporine A upfront and, in selected patients, intrathecal therapy with methotrexate and corticosteroids, and subsequent hematopoietic stem cell transplantation is recommended for patients with familial disease or molecular diagnosis, and patients with severe and persistent, or reactivated, disease.
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TL;DR: The current understanding of the structural, cellular and clinical aspects of perforin and granzyme biology is discussed, beginning to define and understand a range of human diseases that are associated with a failure to deliver active per forin to target cells.
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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Susan E. Stepp,Dufourcq-Lagelouse R,Françoise Le Deist,Françoise Le Deist,Sadhna Bhawan,Stéphanie Certain,Porunelloor A. Mathew,Jan-Inge Henter,Michael J. Bennett,Alain Fischer,Alain Fischer,Geneviève de Saint Basile,Vinay Kumar +12 more
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