| Summary: | Background: To date, more than 200 different types of primary immunodeficiencies (PID) have been identified. Selective IgA deficiency (SIgAD) is the most common PID within the human adaptive immune system, affecting approximately 1:600 in the Western world and in the Nordic countries alone more than 41,000 individuals can be expected to have SIgAD. While some SIgAD individuals appear healthy, others suffer from various diseases, and the clinical significance of SIgAD remains to be better defined. Moreover, the role of SIgAD in the pathogeneses of different diseases is often unclear and may be dependent on different environmental or genetic/epigenetic factors. Although recent multinational genetic studies have provided some insight in the pathogenesis of SIgAD they have also brought into light the true complexity of the matter. The aims of this study: (i) investigation of the prevalence of SIgAD in both healthy individuals and disease cohorts. (ii) investigation of the potential clinical consequences of SIgAD, including the effect on health-related quality of live, using a randomly selected cohort for comparison. (iii) evaluations of the association of HLA genotypes with specific clinical phenotypes. Material and methods: SIgAD individuals were recruited by screening for IgA deficiency among blood donors, re-evaluating SIgAD individuals from an earlier screening of blood donors (1974-1979) and by evaluating individuals that were found during the time period 1992-2006 to have low serum IgA levels when analysed at the departments of clinical chemistry and immunology, Landspitali – The National University Hospital of Iceland. A total of 43 SIgAD individuals (32 adults and 11 children) were identified. The adult cohort was compared with an age- and gender-matched control cohort, randomly selected from the Icelandic National Registry (63 adults). Serum IgA was also evaluated in cohorts of patients with diabetes type 1 in Iceland and patients with Graves´ disease and/or with positive thyrotropin receptor autoantibody ...
|
|---|