Sökning: "STX11"

Hittade 5 avhandlingar innehållade ordet STX11.

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

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :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;

    Sammanfattning : 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. 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. 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

  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. 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