Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19.
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DOI: 10.1055/s-0039-1694778
Abstract: Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features… read more here.
Keywords: lymphohistiocytosis rare; familial hemophagocytic; hemophagocytic lymphohistiocytosis; rare mutation ... See more keywords