Sökning: "Familial hemophagocytic lymphohistiocytosis FHL"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden Familial hemophagocytic lymphohistiocytosis FHL.

  1. 1. Genetic studies of familial hemophagocytic lymphohistiocytosis

    Författare :Kim Göransdotter Ericson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial hemophagocytic lymphohistiocytosis FHL ; PRF1 gene; MUNC13-4 gene; NK cells; cytotoxic T lymphocytes;

    Sammanfattning : 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. LÄS MER

  3. 2. Genetic and cellular studies of familial hemophagocytic lymphohistiocytosis

    Författare :Eva Rudd; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial hemophagocytic lymphohistiocytosis; PRF1; STX11; UNC13D; degranulation; genotype; phenotype;

    Sammanfattning : 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. LÄS MER

  4. 3. Clinical studies of hemophagocytic lymphohistiocytosis

    Författare :Helena Trottestam; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  5. 4. Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis

    Författare :Marie Meeths; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  7. 5. Triggering and mechanisms of natural killer cell mediated cytotoxicity

    Författare :Yenan Bryceson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Natural killer cells; antibody dependent cellular cytotoxicity; natural cytotoxicity; immunodeficiency; hemophagocytic lymphohistiocytosis;

    Sammanfattning : 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. LÄS MER