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Autoimmunity

Immune dysregulation in Down syndrome

Nature Reviews Immunology volume 23, page 201 (2023)Cite this article

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A study in Nature from the lab of Dusan Bogunovic has characterized the immune system in individuals with Down syndrome and highlights several unique features that could explain why these individuals are more prone to severe infections and autoimmunity. Specifically, the authors show that the immune system in Down syndrome is characterized by steady state increases in cytokine expression, CD4+ T cell activation, atypical B cell activation and the presence of autoantibodies. Notably, the study highlights immune pathways, such as IL-6 signalling, that could be targeted to prevent disease manifestations in Down syndrome.

In this study, Malle et al. performed cytokine arrays on plasma from individuals with Down syndrome and age-matched controls and were able to divide Down syndrome individuals into three main groups: one showed marked immune dysregulation and widespread upregulation of 22 out of the 29 cytokines assessed, another group showed significant elevation of a subset of cytokines (including IL-1α, IL-4, IL-6, IL-13 and TNF) and the final group clustered with the controls. Increased cytokine dysregulation in Down syndrome was shown to correlate with greater clinical immune dysfunction. By comparing cytokine profiles seen in Down syndrome and COVID-19, the authors showed that at least one-third of individuals with Down syndrome have elevated baseline cytokine expression levels that resemble those seen in a severe acute viral infection. Therefore, the authors propose that Down syndrome is a cytokinopathy.

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  1. Nature Reviews Immunology http://www.nature.com/nri/

    Yvonne Bordon

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  1. Yvonne Bordon
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Correspondence to Yvonne Bordon.

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Bordon, Y. Immune dysregulation in Down syndrome. Nat Rev Immunol 23, 201 (2023). https://doi.org/10.1038/s41577-023-00855-z

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  • DOI: https://doi.org/10.1038/s41577-023-00855-z

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