Document Detail


Inherited defects causing hemophagocytic lymphohistiocytic syndrome.
MedLine Citation:
PMID:  22236431     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Hemophagocytic lymphohistiocytosis (HLH) manifests as the uncontrolled activation of T lymphocytes and macrophages infiltrating multiple organs. Molecular studies of individuals with HLH have demonstrated in most of these conditions a critical role of granule-dependent cytotoxic activity in the regulation of lymphocyte homeostasis, and have allowed the characterization of key effectors regulating cytotoxic granule release. The cytolytic process may now be considered a multistep process, including cell activation; the polarization of cytotoxic granules toward the conjugated target cell; the tethering, priming, and fusion of the cytotoxic granules with the plasma membrane; and the release of their contents (perforin and granzymes) into the intercellular cleft, leading to target cell death. Cytolytic cells have a second effector function involving the production of cytokines, principally γ-interferon, which is secreted independently of the exocytosis cytotoxic granule pathway. An analysis of the mechanisms underlying HLH has identified γ-interferon as a key cytokine inducing uncontrolled macrophage activation, and thus represents a potential therapeutic target.
Authors:
Geneviève de Saint Basile; Gaël Ménasché; Sylvain Latour
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  1246     ISSN:  1749-6632     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2012-01-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-76     Citation Subset:  IM    
Copyright Information:
© 2011 New York Academy of Sciences.
Affiliation:
Institut National de la Santé et de la Recherche Médicale INSERM, U768, Paris, France. Université Paris Descartes, Sorbone Paris Cité, Faculté de Médecine, Necker Hospital, 75015 Paris, France. Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris (AP-HP) Hôpital Necker, 75015 Paris, France.
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