Search for dissertations about: "XLA"

Showing result 1 - 5 of 11 swedish dissertations containing the word XLA.

  1. 1. Molecular biology of Brouton´s tyrosine kinase

    Author : Carl-Magnus Bäckesjö; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; X-linked agammaglobulinemia; XLA; Bruton s tyrosine kinase; Btk; signal transduction; phosphorylation; pleckstrin homology domain; PH; SH2; SH3.;

    Abstract : X-linked agammaglobulinemia (XLA) is caused by an arrest in the B lymphocyte differentiation. XLA patients lack mature B-cells and subsequently antibody production. The defective gene causing XLA is the BTK gene, which codes for the protein Bruton s tyrosine kinase (Btk), a cytoplasmic enzyme related to the Src family of kinases. READ MORE

  2. 2. Molecular dissection of B-lymphocyte signalling using expression profiling

    Author : Jessica M Lindvall; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; Btk; B-lymphocyte; gene expression profiling; signal transduction;

    Abstract : Gene expression profiling and bioinformatics have emerged into playing a large and diverse role in many aspects of both the clinical and molecular research. These two approaches have in this thesis work been used in combination in order to shed light to the role of Bruton's tyrosine kinase (Btk) in B-lymphocyte development and signal transduction. READ MORE

  3. 3. Subcellular localization and signalling of Brutons tyrosine kinase (Btk)

    Author : Leonardo Vargas-Vallejo; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; B-cells; Brutons tyrosine kinase; X-linked agammaglobulinemia; pleckstrin homology domain; cytoskeleton; nucleocytoplasmic shuttling; caveolin-1; ubiquitin; SUMO-1.;

    Abstract : Brutons tyrosine kinase (Btk) is a non-receptor tyrosine kinase related to the Src family of kinases. Mutations in various parts of the gene have been shown to cause X-linked agammaglobulinemia (XLA), a primary immunodeficiency in humans, characterized by a defect in B-cell development. READ MORE

  4. 4. Bruton tyrosine kinase in immunodeficiency and in B-cell malignancy

    Author : Qing Wang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : BTK inhibitors have induced high response rates in the treatment of leukemias and lymphomas. Ibrutinib is the first-in-class US Food and Drug Administration (FDA)-approved BTK covalent inhibitor to treat chronic lymphocytic leukemia (CLL). However, a sub-group of patients develops resistance to ibrutinib therapy. READ MORE

  5. 5. Newborn screening for severe primary immunodeficiencies

    Author : Stephan Borte; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. This is often accompanied by severe recurrent infections with drug-resistant, long progressions. READ MORE