An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression
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چکیده
منابع مشابه
Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocy-tosis in an Iranian family with two siblings. E...
متن کاملperforin gene analaysis in an iranian family with familial hemophagocytic lymphohistiocytosis
perforin gene (prf1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (fhl), an immune disorder of infancy and early childhood. cytotoxic t and natural killer (nk) cell activities are remarkably reduced or ab-sent in fhl patients. we report the first cases of familial hemophagocytic lymphohistiocy-tosis in an iranian family with two siblings. e...
متن کاملFamilial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report
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 al...
متن کاملPerforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) a...
متن کاملDown-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.
Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled activation of T cells and macrophages with overproduction of cytokines. Familial HLH type 2 (FHL2) is the most common form of primary HLH and is caused by mutations in PRF1. We have recently described a significant increase in the subpopulation of CD8(+) T cells with clonal expansion and CD5 down-regulation in Epstein-Bar...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2004
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.20256