Sökning: "Primary immunodeficiency"
Visar resultat 1 - 5 av 66 avhandlingar innehållade orden Primary immunodeficiency.
1. Primary immunodeficiency in southern Sweden. Strategies for diagnosis and clinical management
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. Genetics of primary immunodeficiency diseases
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. Development of screening for primary immunodeficiency
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
4. Newborn screening for severe primary immunodeficiencies
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
5. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation
Sammanfattning : Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by cerebellar degeneration with ataxia, ocular and cutaneous telangiectasias, radiosensitivity, chromosomal instability, immunodeficiency, and cancer predisposition in both patients and heterozygous carriers of the gene. The gene responsible for the disorder, ATM, has been identified as a member of a family of phosphatidylinositol 3-kinaserelated genes and is one of the master controllers of the networks that are involved in cell cycle control and response to DNA damage. LÄS MER