Article
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
Blood - 4 Jul 2013
Zhao Xi Wen, Gazendam Roel P, Drewniak Agata, van Houdt Michel, Tool Anton T J, van Hamme John L, Kustiawan Iwan, Meijer Alexander B, Janssen Hans, Russell David G, van de Corput Lisette, Tesselaar Kiki, Boelens Jaap J, Kuhnle Ingrid, Van Der Werff Ten Bosch Jutte, Kuijpers Taco W, van den Berg Timo K
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (FHL) is caused by genetic defects in cytotoxic granule components or their fusion machinery, leading to impaired natural killer cell and/or T lymphocyte degranulation and/or cytotoxicity. This may accumulate into a life-threatening condition known as macrophage activation syndrome. STXBP2, also known as MUNC18-2, has recently been identified as the disease-causing gene...
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