http://purl.uniprot.org/citations/19834793 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/19834793 | http://www.w3.org/2000/01/rdf-schema#comment | "IntroductionSelective IgA deficiency (IgAD; serum IgA concentration of <0.07 g/l) is the most common primary immunodeficiency in Caucasians with an estimated prevalence of 1/600. The frequency of the extended major histocompatibility complex haplotype HLA A1, B8, DR3, DQ2 (the "8.1" haplotype) is increased among patients with IgAD.Materials and methodsWe carried out a direct measurement of the relative risk of homozygosity of the 8.1 haplotype for IgA deficiency in a population-based sample of 117 B8, DR3 homozygous individuals.Results and discussionIgA deficiency was found to be present in 2 of 117 (1.7%) of these subjects, a figure that is concordant with estimates of relative risk from large case-control studies in the Swedish population. These data are consistent with a multiplicative model for the 8.1 haplotype contribution to IgA deficiency and contrasts with prior studies, suggesting a much higher risk for 8.1 homozygosity. Using a dense single nucleotide polymorphism marker analysis of the MHC region in HLA B8, DR3, DQ2 homozygous individuals, we did not observe consistent differences between cases (n = 26) and controls (n = 24). Overall, our results do not support the hypothesis that IgA deficiency is associated with a distinct subgroup of 8.1 related haplotypes, but rather indicate that risk is conferred by the common 8.1 haplotype acting in multiplicative manner."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10875-009-9336-2"xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Hammarstrom L."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Rezaei N."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Aghamohammadi A."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Gregersen P.K."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Ramanujam R."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Jarefors S."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/author | "Mohammadi J."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/name | "J Clin Immunol"xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/pages | "138-143"xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/title | "IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype."xsd:string |
http://purl.uniprot.org/citations/19834793 | http://purl.uniprot.org/core/volume | "30"xsd:string |
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