Sökning: "Common variable immunodeficiency"

Visar resultat 1 - 5 av 12 avhandlingar innehållade orden Common variable immunodeficiency.

  1. 1. Novel genetic associations with common variable immunodeficiency

    Författare :Omar Khalid Sharif Alkhairy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Common variable immunodeficiency (CVID) is the most frequently encountered primary immunodeficiency disorder in clinical practice and is a cause of significant morbidity and mortality for patients. The main clinical features are hypogammaglobulinemia, recurrent infections and autoimmune disorders. LÄS MER

  3. 2. Genetics of primary immunodeficiency diseases

    Författare :Javad Mohammadi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :HLA Antigens; IgA deficiency; Common variable immunodeficiency; immunogenetics; immunodeficiency; TACI;

    Sammanfattning : Selective IgA deficiency (IgAD) (serum IgA concentration of T), which abolished expression of the TACI molecule. In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in 2 patients with CVID and one, novel, heterozygous P42T mutation. LÄS MER

  4. 3. Nasopharynx and mucosa associated lymphatic tissue : studies on mucosal immunity, nasopharyngeal colonization with non-encapsulated non-typable Haemophilus influenzae and local administration of immunoglobulin in the upper respiratory tract

    Författare :Karin Lindberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Nasopharyngeal colonization with non-encapsulated Haemophilus influenzae (NTHI) frequently occurs in infants and in adults with common variable immunodeficiency (CVID), but is rarely found among healthy adults. In children with recurrent episodes of acute otitis media (RAOM), NTHI is more common than in healthy individuals. LÄS MER

  5. 4. NGS based studies on primary immunodeficiencies (PIDs) : causative gene identification, tool development and application

    Författare :Mingyan Fang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Primary immunodeficiency diseases (PIDs) are composed by a group of highly heterogeneous immune system diseases, of which approximately 350 forms of PID have been described so far. The causative gene of around 60% of patients with PIDs has yet unknown. LÄS MER

  7. 5. Characterization of the genome and tumor microenvironment of human B-cell lymphoma

    Författare :Xiaofei Ye; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Non-Hodgkin lymphoma (NHL) is the 13th most common type of cancer worldwide in 2020 and consists mainly of human B-cell lymphoma (approximately 85%). Diffuse large B-cell lymphoma (DLBCL) is the most common NHL subtype (approximately 30%). LÄS MER