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Case report: type 1 diabetes in monozygotic quadruplets

K. Stechova, Z. Halbhuber, M. Hubackova, J. Kayserova, L. Petruzelkova, J. Vcelakova, S. Kolouskova, T. Ulmannova, M. Faresjö, A. Neuwirth, R. Spisek, A. Sediva, D. Filipp, Z. Sumnik

. 2012 ; 20 (4) : 457-62.

Language English Country England, Great Britain

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

E-resources Online Full text

NLK Free Medical Journals from 2009
PubMed Central from 2009 to 1 year ago
Europe PubMed Central from 2009 to 1 year ago
ProQuest Central from 2000-01-01 to 1 year ago
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Medline Complete (EBSCOhost) from 1998-01-01 to 2015-12-31
Health & Medicine (ProQuest) from 2000-01-01 to 1 year ago

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.

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