Search for dissertations about: "Familial hemophagocytic lymphohistiocytosis FHL"
Showing result 1 - 5 of 8 swedish dissertations containing the words Familial hemophagocytic lymphohistiocytosis FHL.
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1. Genetic studies of familial hemophagocytic lymphohistiocytosis
Abstract : The main contribution from this thesis is a refined knowledge of locus heterogeneity in familial hernophagocytic lympbohistiocytosis (FHL) and a further characterization of corresponding clinical and immunological phenotypes. Familial hemophagocytic lymphohistiocytosis is a fatal autosomal recessive immune deficiency clinically characterized by fever, cytopenia, hepatosplenomegaly, and hemophagocytosis. READ MORE
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2. Genetic and cellular studies of familial hemophagocytic lymphohistiocytosis
Abstract : Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive and genetically heterogeneous disorder of immune dysregulation with an incidence of 1/50000 live births that is inevitably fatal without appropriate treatment. The disease is characterized by fever, hepatosplenomegaly, cytopenias, hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and, sometimes, hemophagocytosis in bone marrow and/or other organs such as liver, spleen or lymph nodes. READ MORE
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3. Clinical studies of hemophagocytic lymphohistiocytosis
Abstract : Background and aims: The term hemophagocytic lymphohistiocytosis (HLH) comprises two main disease entities: the primary, familial form (FHL) and an acquired, secondary form (sHLH). FHL is autosomal recessive in inheritance, typically affects very young children and is almost invariably fatal unless treated. READ MORE
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4. Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis
Abstract : Hemophagocytic lymphohistocytosis (HLH) is a life-threatening hyperinflammatory condition characterized by fever, cytopenia, hepatosplenomegaly, and sometimes hemophagocytosis. HLH is typically divided into two distinct groups, primary HLH and secondary HLH. READ MORE
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5. Triggering and mechanisms of natural killer cell mediated cytotoxicity
Abstract : Natural killer (NK) cells are innate immune cells that contribute to defense against infected and transformed cells by target cell killing and cytokine release. In addition, data suggest that NK cells contribute to immune homeostasis and reproduction. READ MORE