Sinikka Koskinen

TL;DR: The hypothesis that autoimmune mechanisms may contribute to the pathogenesis of IgAD is supported, after a genome-wide association study in 430 affected individuals from Sweden and Iceland and 1,090 ethnically matched controls.

TL;DR: ICH caused by FNAIT often occurs during second trimester and the clinical outcome is poor, so at-risk pregnancies must be identified and prevention and/or interventions should start early in the secondtrimester.

TL;DR: The findings indicate that persons with a severe deficiency of and decreased serum IgA who are healthy as young adults have an increased susceptibility to pneumonia and recurrent episodes of other respiratory infections and a higher risk of developing autoimmune diseases in middle age.

TL;DR: Despite the strong population-specific frequencies of HLA alleles, a remarkable conservation of these effects regardless of the ethnic background is found, which supports the use of large multi-ethnic populations to characterize shared genetic association signals in the HLA region.

TL;DR: A novel shared risk locus for IgA deficiency, CVID and CD is identified, the first report of association between CTLA4-ICOS and IgAD, and disease-associated markers were associated with lower ICOS and higherCTLA4 expression, indicating that the risk haplotypes contain functional variants.