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Published in: Journal of Clinical Immunology 6/2020

01-08-2020 | Trisomy 21 | Commentary

Bourgeoning Scientific Research in Down Syndrome

Author: Dusan Bogunovic

Published in: Journal of Clinical Immunology | Issue 6/2020

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Excerpt

The earliest evidence of existence of individuals with Down syndrome (DS) dates to ancient art in Mesoamerica. Furthermore, analysis of bone structure from graves in France, California, and Ireland suggests that individuals with DS were part of our societies for millennia. In more modern medical terms, DS was described in the mid-1800s by scientists in France and England [1, 2]. A century later, in 1959, the genetic underpinning was described leading to now the synonymous term trisomy 21 (although the genetics of DS can be substantially more complex) [3]. Either way, tremendous progress has been made over the last half a century in the medical treatment of individuals with DS. The life expectancy for individuals with DS went from about 30 years in the 1980s to about 60 years in 2020 [4]. But there is much more we can, should, and actually are doing to understand physiology of individuals with DS. In this issue of JoCI, a review article and a research article are dedicated to immunology in individuals with DS. …
Literature
1.
go back to reference Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard. 1995;33(1):54–6.PubMed Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard. 1995;33(1):54–6.PubMed
2.
go back to reference Evans-Martin FF. Down syndrome. Genes & disease. New York: Chelsea House; 2009. 144 p Evans-Martin FF. Down syndrome. Genes & disease. New York: Chelsea House; 2009. 144 p
3.
go back to reference Lejeune J, Gauthier M, Turpin R. Human chromosomes in tissue cultures. C R Hebd Seances Acad Sci. 1959;248(4):602–3.PubMed Lejeune J, Gauthier M, Turpin R. Human chromosomes in tissue cultures. C R Hebd Seances Acad Sci. 1959;248(4):602–3.PubMed
5.
go back to reference Verstegen RHJ, Kusters MAA. Inborn errors of adaptive immunity in Down syndrome. J Clin Immunol. 2020. Verstegen RHJ, Kusters MAA. Inborn errors of adaptive immunity in Down syndrome. J Clin Immunol. 2020.
6.
go back to reference Kong X-F, Worley L, Rinchai D, Bondet V, Jithesh PV, Goulet M, et al. Three copies of four interferon receptor genes underlie a mild type I interferonopathy in Down syndrome. J Clin Immunol. 2020. Kong X-F, Worley L, Rinchai D, Bondet V, Jithesh PV, Goulet M, et al. Three copies of four interferon receptor genes underlie a mild type I interferonopathy in Down syndrome. J Clin Immunol. 2020.
7.
go back to reference Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, et al. Mass cytometry reveals global immune remodeling with multi-lineage hypersensitivity to type I interferon in Down syndrome. Cell Rep. 2019;29(7):1893–908 e4.CrossRef Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, et al. Mass cytometry reveals global immune remodeling with multi-lineage hypersensitivity to type I interferon in Down syndrome. Cell Rep. 2019;29(7):1893–908 e4.CrossRef
8.
go back to reference Sullivan KD, Lewis HC, Hill AA, Pandey A, Jackson LP, Cabral JM, et al. Trisomy 21 consistently activates the interferon response. Elife. 2016;5. Sullivan KD, Lewis HC, Hill AA, Pandey A, Jackson LP, Cabral JM, et al. Trisomy 21 consistently activates the interferon response. Elife. 2016;5.
9.
go back to reference Altman JB, Taft J, Wedeking T, Gruber CN, Holtmannspötter M, Piehler J, et al. Type I IFN is siloed in endosomes. [published online ahead of print, 2020 Jul 14]. Proc Natl Acad Sci U S A. 2020;201921324. Altman JB, Taft J, Wedeking T, Gruber CN, Holtmannspötter M, Piehler J, et al. Type I IFN is siloed in endosomes.  [published online ahead of print, 2020 Jul 14]. Proc Natl Acad Sci U S A. 2020;201921324.
10.
go back to reference Malle L, et al. COVID-19 hospitalization is more frequent and severe in Down syndrome. medRxiv. 2020:2020.05.26.20112748. Malle L, et al. COVID-19 hospitalization is more frequent and severe in Down syndrome. medRxiv. 2020:2020.05.26.20112748.
Metadata
Title
Bourgeoning Scientific Research in Down Syndrome
Author
Dusan Bogunovic
Publication date
01-08-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 6/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00837-z

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