title: 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 cytokines, and hemophagocytosis. In all, 5 genetic loci have been identified in FHL, and all known affected genes encode critical components of the granule exocytosis pathway, which is essential for the release of cytotoxic granules and proteases that are necessary for targeted cell death. Herein we present an FHL patient with a severe clinical course and a very rare perforin gene mutation. The patient was homozygous for A665G mutation. However, the child died in a short period of time. Prenatal diagnosis was performed in the family and the fetus was found to be heterozygous for the mutation.
authors.affiliation: Gazi University, School of Medicine, Department of Pediatrics, Ankara, Turkey.
authors.forename: Idil
authors.initials: I
authors.lastname: Yenicesu
authors.affiliation: Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: De Saint Basile
authors.initials: de SB
authors.lastname: Geneviève
authors.affiliation: Gazi University, School of Medicine, Department of Pediatrics, Ankara, Turkey.
authors.forename: Hamdi Cihan
authors.initials: HC
authors.lastname: Emeksiz
authors.affiliation: Gazi University, School of Medicine, Department of Pediatrics, Ankara, Turkey.
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgıç
keywords: A665G homozygous mutation; Familial hemophagocytic lymphohistiocytosis; Perforin gene; Prenatal diagnosis; Turkey
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