Search for dissertations about: "UNC13D"

Showing result 1 - 5 of 9 swedish dissertations containing the word UNC13D.

  2. 1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Author : Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Abstract : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. READ MORE

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

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

    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

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

    Author : Marie Meeths; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    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

  6. 4. Triggering and mechanisms of natural killer cell mediated cytotoxicity

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

    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

  7. 5. Hemophagocytic lymphohistiocytosis and associations with malignancies

    Author : Alexandra Haara Löfstedt; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE