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Current Diabetes Reports
Published in: Current Diabetes Reports 9/2020

Open Access 01-09-2020 | Trisomy 21 | Other Forms of Diabetes and Its Complications (JJ Nolan and H Thabit, Section Editors)

Early Onset of Autoimmune Diabetes in Children with Down Syndrome—Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?

Authors: Georgina L. Mortimer, Kathleen M. Gillespie

Published in: Current Diabetes Reports | Issue 9/2020

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Abstract

Purpose of Review

An increased frequency of autoimmunity in children with Down syndrome (DS) is well described but few studies have investigated the underlying mechanisms. Recent immune system investigation of individuals with DS may shed light on the increased risk of autoimmune conditions including type 1 diabetes.

Recent Findings

Diagnosis of type 1 diabetes is accelerated in children with DS with 17% diagnosed at, or under, the age of 2 years compared with only 4% in the same age group in the general population. Counterintuitively, children with DS and diabetes have less human leukocyte antigen (HLA)-mediated susceptibility than age-matched children with autoimmune diabetes from the general population. Early onset of diabetes in DS is further highlighted by the recent description of neonatal cases of diabetes which is autoimmune but not HLA associated. There are two potential explanations for this accelerated onset: (1) an additional chromosome 21 increases the genetic and immunological risk of autoimmune diabetes or (2) there are two separate aetiologies in children with DS and diabetes.

Summary

Autoimmunity in DS is an under-investigated area. In this review, we will draw on recent mechanistic studies in individuals with DS which shed some light on the increased risk of autoimmunity in children with DS and consider the current support for and against two aetiologies underlying diabetes in children with DS.
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Metadata
Title
Early Onset of Autoimmune Diabetes in Children with Down Syndrome—Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?
Authors
Georgina L. Mortimer
Kathleen M. Gillespie
Publication date
01-09-2020
Publisher
Springer US
Published in
Current Diabetes Reports / Issue 9/2020
Print ISSN: 1534-4827
Electronic ISSN: 1539-0829
DOI
https://doi.org/10.1007/s11892-020-01318-8

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