Sökning: "Familial hemophagocytic lymphohistiocytosis"

Visar resultat 1 - 5 av 11 avhandlingar innehållade orden Familial hemophagocytic lymphohistiocytosis.

  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. Hemophagocytic lymphohistiocytosis and associations with malignancies

    Författare :Alexandra Haara Löfstedt; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : In immune homeostasis, natural killer cells and cytotoxic T cells are responsible for clearance of virus-infected and tumor transformed cells, but also for turning off the immune response. Patients with familial hemophagocytic lymphohistiocytosis (HLH) have impaired cytotoxic function due to genetic aberrations in genes in the perforindependent cytotoxic pathway. LÄS MER

  7. 5. 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