Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macrophages and T-lymphocytes, over production of proinflammatory… (More)
DOI: 10.5505/tjh.2012.62134

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