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Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

1 Aug 2008

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of...

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PMID: 18799942
DOI: 10.1097/mph.0b013e31817580fd

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