Sökning: "PRF1 gene"

Hittade 5 avhandlingar innehållade orden PRF1 gene.

  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. Locus specific DNA methylation in human immunological responses

    Författare :Emma Ahlén Bergman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : All cells in the human body contains the same genome. Yet, there are hundreds of different cell types, with widely different phenotype, and function. The differential gene expression leading to this diversity is tightly regulated by epigenetics, i.e. LÄS MER

  5. 4. Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy

    Författare :Bianca Tesi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The immune system represents the body’s defense against infectious organisms. Inborn defects of the immune system, called primary immunodeficiencies (PIDs), are a heterogeneous group of Mendelian disorders. Clinically, PIDs can cause isolated to broad susceptibility to pathogens, severe hyperinflammation, autoimmunity, allergy, and cancer. LÄS MER

  7. 5. Clinical and epidemiological studies of haemophagocytic lymphohistiocytosis

    Författare :AnnaCarin Horne; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Haemophagocytic lymphohistiocytosis; treatment; hematopoietic stem cell transplant; lymphocyte cytotoxicity; central nervous system; neurological symptoms; genotype-phenotype;

    Sammanfattning : Haemophagocytic lymphohistiocytosis (HLH) comprises primary (inherited) and secondary forms. The primary forms typically present in young children and carry a very high risk of mortality. The secondary forms, which are the result of different disorders, can present in all ages with greatly varying symptoms. LÄS MER