Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Journal of Clinical Investigation

Volumn 119, Issue 12, 2009, Pages 3765-3773

  Côte, Marjorie ^a,b   Ménager, Mickaël M ^a,b   Burgess, Agathe ^a,b   Mahlaoui, Nizar ^a   Picard, Capucine ^a,b   Schaffner, Catherine ^a,b   Al Manjomi, Fahad ^c   Al Harbi, Musa ^c   Alangari, Abdullah ^d   Le Deist, Françoise ^e   Gennery, Andrew R ^f   Prince, Nathalie ^a,b   Cariou, Astrid ^b   Nitschke, Patrick ^b   Blank, Ulrich ^b,g   El Ghazali, Gehad ^c   Ménasché, Gaël ^a,b   Latour, Sylvain ^a,b   Fischer, Alain ^a,b   De Saint Basile, Geneviève ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^g INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CORTICOSTEROID; CYCLOSPORIN A; METHOTREXATE; MUNC13 PROTEIN; MUNC18 PROTEIN; SYNTAXIN; SYNTAXIN 11; SYNTAXIN BINDING PROTEIN 2; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELL ISOLATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXICITY; DRUG MEGADOSE; DRUG WITHDRAWAL; EXOCYTOSIS; GENE FUNCTION; GENE MUTATION; GRANULE CELL; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; HUMAN CELL; INFANT; INTRACELLULAR MEMBRANE; LYMPHOBLAST; LYMPHOCYTE ACTIVATION; LYMPHOCYTE FUNCTION; MEMBRANE FUSION; MUNC18-2 DEFICIENCY; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; WILD TYPE;

EID: 72849125357     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI40732     Document Type: Article

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