Down syndrome and type I interferon: not so simple.
Journal
Current opinion in immunology
ISSN: 1879-0372
Titre abrégé: Curr Opin Immunol
Pays: England
ID NLM: 8900118
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
14
04
2021
revised:
02
06
2021
accepted:
08
06
2021
pubmed:
27
6
2021
medline:
11
3
2022
entrez:
26
6
2021
Statut:
ppublish
Résumé
Down syndrome (DS) is characterized by a collection of clinical features including intellectual disability, congenital malformations, and susceptibility to infections and autoimmune diseases. While the presence of an extra chromosome 21 is known to cause DS, the precise genetic annotation linked to specific clinical features is largely missing. However, there is growing evidence that two genes located on chromosome 21, IFNAR1 and IFNAR2, play an important role in disease pathogenesis. These genes encode the two subunits of the receptor for type I interferons (IFN-I), a group of potent antiviral and pro-inflammatory cytokines. Human monogenic diseases caused by uncontrolled IFN-I production and response have been well characterized, and they clinically overlap with DS but also have notable differences. Herein, we review the literature characterizing the role of IFN-I in DS and compare and contrast DS to other IFN-mediated conditions. The existing IFN-I literature serves as a rich resource for testable hypotheses to elucidate disease mechanisms in DS and is likely to open novel therapeutic avenues.
Identifiants
pubmed: 34174697
pii: S0952-7915(21)00076-5
doi: 10.1016/j.coi.2021.06.006
pmc: PMC8578175
mid: NIHMS1715264
pii:
doi:
Substances chimiques
Biomarkers
0
Interferon Type I
0
Receptors, Interferon
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
196-205Subventions
Organisme : NIAID NIH HHS
ID : R01 AI150300
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD075735
Pays : United States
Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.
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