Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic...
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
About this item
Full title
Author / Creator
Côte, Marjorie , Ménager, Mickaël M. , Burgess, Agathe , Mahlaoui, Nizar , Picard, Capucine , Schaffner, Catherine , Al-Manjomi, Fahad , Al-Harbi, Musa , Alangari, Abdullah , Le Deist, Françoise , Gennery, Andrew R. , Prince, Nathalie , Cariou, Astrid , Nitschke, Patrick , Blank, Ulrich , El-Ghazali, Gehad , Ménasché, Gaël , Latour, Sylvain , Fischer, Alain and de Saint Basile, Geneviève
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive immune disorder characterized by the occurrence of uncontrolled activation of lymphocytes and macrophages infiltrating multiple organs. Disease-causing mutations in the perforin (PRF1; also known as FHL2), Munc13-4 (UNC13D; also known as FHL3), and...
Alternative Titles
Full title
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
Authors, Artists and Contributors
Author / Creator
Ménager, Mickaël M.
Burgess, Agathe
Mahlaoui, Nizar
Picard, Capucine
Schaffner, Catherine
Al-Manjomi, Fahad
Al-Harbi, Musa
Alangari, Abdullah
Le Deist, Françoise
Gennery, Andrew R.
Prince, Nathalie
Cariou, Astrid
Nitschke, Patrick
Blank, Ulrich
El-Ghazali, Gehad
Ménasché, Gaël
Latour, Sylvain
Fischer, Alain
de Saint Basile, Geneviève
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2786810
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2786810
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI40732
