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Case report: type 1 diabetes in monozygotic quadruplets
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2012 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 20, no 4, 457-462 p.Article in journal (Refereed) Published
Abstract [en]

Type 1 diabetes (T1D) is an autoimmune disease characterized by the lack of insulin due to an autoimmune destruction of pancreatic beta cells. Here, we report a unique case of a family with naturally conceived quadruplets in which T1D was diagnosed in two quadruplets simultaneously. At the same time, the third quadruplet was diagnosed with the pre-diabetic stage. Remarkably, all four quadruplets were positive for anti-islet cell antibodies, GAD65 and IA-A2. Monozygotic status of the quadruplets was confirmed by testing 14 different short tandem repeat polymorphisms. Serological examination confirmed that all quadruplets and their father suffered from a recent enteroviral infection of EV68-71 serotype. To assess the nature of the molecular pathological processes contributing to the development of diabetes, immunocompetent cells isolated from all family members were characterized by gene expression arrays, immune-cell enumerations and cytokine-production assays. The microarray data provided evidence that viral infection, and IL-27 and IL-9 cytokine signalling contributed to the onset of T1D in two of the quadruplets. The propensity of stimulated immunocompetent cells from non-diabetic members of the family to secrete high level of IFN-α further corroborates this conclusion. The number of T regulatory cells as well as plasmacytoid and/or myeloid dendritic cells was found diminished in all family members. Thus, this unique family is a prime example for the support of the so-called ‘fertile-field’ hypothesis proposing that genetic predisposition to anti-islet autoimmunity is ‘fertilized’ and precipitated by a viral infection leading to a fully blown T1D.

Place, publisher, year, edition, pages
2012. Vol. 20, no 4, 457-462 p.
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Medical and Health Sciences
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URN: urn:nbn:se:hj:diva-18715DOI: 10.1038/ejhg.2011.212PubMedID: 22108602Local ID: HHJövrigtISOAI: oai:DiVA.org:hj-18715DiVA: diva2:537713
Available from: 2012-06-27 Created: 2012-06-27 Last updated: 2013-09-25Bibliographically approved

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Faresjö, Maria
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CiteExportLink to record
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Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
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More styles
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  • de-DE
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  • Other locale
More languages
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