Article
Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Experimental hematology - 1 Dec 2015
Kostova Elena B, Beuger Boukje M, Veldthuis Martijn, van der Werff Ten Bosch Jutte, Kühnle Ingrid, van den Akker Emile, van den Berg Timo K, van Zwieten Rob, van Bruggen Robin
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is a rare genetic disorder caused by mutations in STXBP2/Munc18-2. Munc18-2 plays a role in the degranulation machinery of natural killer cells and cytotoxic T lymphocytes. Mutations in STXBP2/Munc18-2 lead to impaired killing of target c...
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