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Visar resultat 1 - 5 av 67 avhandlingar som matchar ovanstående sökkriterier.

  1. 1. Primary immunodeficiency in southern Sweden. Strategies for diagnosis and clinical management

    Författare :Nicholas Brodszki; Lund Pediatrik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immune system; Lymphocytes; T-cell; B-cell; Antibodies; Complement system; Epidemiological study; Primary immunodeficiency; Severe combined immunodeficiency; Hematopoietic stem cell transplantation;

    Sammanfattning : The overall aim of this PhD project was to gain insight into the incidence of primary immunodeficiency (PID) in southern Sweden and to optimize diagnostic and treatment measures for these patients. We estimated the occurrence rate of PID in the pediatric population of southern Sweden during a period of 4 years and described the demographic, clinical and immunological characteristics of the identified cases. LÄS MER

  2. 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

  3. 3. Revisiting dental caries as an immunodeficiency disorder

    Författare :Nongfei Sheng; Nicklas Strömberg; Anders Esberg; Thomas Boren; Anna Westerlund; Vuokko Loimaranta; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; caries; immunodeficiency; proline-rich proteins; DMBT1; S. mutans; adhesin; SpaP; Cnm; Cbm; collagen binding; caries risk stratification; precision dentistry;

    Sammanfattning : Worldwide, dental caries is the major human chronic disease, with billions of people affected in terms of life quality impairment and high society costs that consumes 5-10% of the global healthcare budget. In Western countries dental caries has declined dramatically, with a trajectory of 15% high-risk individuals with recurrent caries and a non-responder behavior to standard prevention. LÄS MER

  4. 4. Development of screening for primary immunodeficiency

    Författare :Magdalena Janzi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Primary immunodeficiencies are inherited disorders of the immune system, with an estimated prevalence of 1:500 in the USA. Yet, a majority of the patients are still undiagnosed. Most patients with a diagnosis come in contact with the healthcare due to complications caused by the immunological defects. LÄS MER

  5. 5. Newborn screening for severe primary immunodeficiencies

    Författare :Stephan Borte; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER