ArticleClinical and experimental immunology2012
Down syndrome, autoimmunity and T regulatory cells.
Article in Clinical and experimental immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 81 citations in OpenAlex.
- Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.Frontiers in immunology · 2019Trial
- Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype.Journal of immunology (Baltimore, Md. : 1950) · 2014Trial
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns.Journal of intellectual disability research : JIDR · 2026Article
- Hyperactivation of the cGAS-STING pathway promotes liver inflammation in Down syndrome.Genes and immunity · 2026Article
- Immune Dysregulation in Down Syndrome: Implications for Infectious Susceptibility and Vaccine Response.Journal of clinical immunology · 2026Review
- Subclinical inflammation in children with Down syndrome: implications for preventive care.Annals of pediatric endocrinology & metabolism · 2026Article
- Non-immunoglobulin E-mediated gastrointestinal food allergies in children with Down syndrome: An epidemiological study.The World Allergy Organization journal · 2025Article
- Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis.Saudi medical journal · 2025Article
- DYRK1A in blood and immune function: implications in leukemia, inflammatory disorders, infection and Down syndrome.Frontiers in cell and developmental biology · 2025Review
- Autoimmune Thyroid Disease in Patients with Down Syndrome-Review.International journal of molecular sciences · 2024Review
- The immune system in Down Syndrome: Autoimmunity and severe infections.Immunological reviews · 2024Review
- Characterization of autoimmune eye disease in association with Down's syndrome.Eye (London, England) · 2024Article
- Use of Ozonized Water in the Prevention of Surgical Site Infection in Children Undergoing Cardiovascular Surgery.Brazilian journal of cardiovascular surgery · 2023Article
- Down syndrome: insights into autoimmune mechanisms.Nature reviews. Rheumatology · 2023Article
- Characterization of autoimmune eye disease in association with Down's Syndrome.Research square · 2023Article
- FRTX-02, a selective and potent inhibitor of DYRK1A, modulates inflammatory pathways in mouse models of psoriasis and atopic dermatitis.Journal of translational autoimmunity · 2023Article
- Review
- The innate immune system stimulating cytokine GM-CSF improves learning/memory and interneuron and astrocyte brain pathology in Dp16 Down syndrome mice and improves learning/memory in wild-type mice.Neurobiology of disease · 2022Article
- Proposed Pathogenesis of Diffuse Alveolar Hemorrhage in Idiopathic Pulmonary Hemosiderosis.Lung · 2022Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune diseases are more represented in Down syndrome (DS) individuals compared to chromosomally normal people. Natural T regulatory cells (nT(reg) ) have been considered to be primary in the role of controlling the intensity and targets of the immune response. We have investigated the phenotypical and functional alteration of nT(reg) in a group of DS people. The phenotypical characteristic of T(reg) cells of 29 DS was analysed and compared with an age-matched healthy control group. The inhibitory potential of CD4(+) CD25(high) CD127(low) T regulatory cells was evaluated on autologous CD4(+) CD25(-) T cell proliferation in response to activation with a mytogenic pan-stimulus (anti-CD2, anti-CD3 and anti-CD28 antibodies). The CD4(+) CD25(high) cells in the DS and control groups were 2·692±0·3808%, n=29 and 1·246±0·119, n=29%, respectively (P=0.0007), with a percentage of forkhead box protein 3 (FoxP3)-expressing cells of 79·21±3·376%, n=29 and 59·75±4·496%, respectively (P=0.0015). CD4(+) CD25(+) FoxP3(+) cells were increased in peripheral blood from DS subjects (DS mean 5·231±0·6065% n=29, control mean 3·076±0·3140% n=29). The majority of CD4(+) CD25(high) were CD127(low) and expressed a high percentage of FoxP3 (natural T(reg) phenotype). While the proliferative capacity of DS T cells was not altered significantly compared to normal individuals, a reduced inhibitory potential of T(reg) compared to healthy controls was clearly observed (mean healthy control inhibition in T(eff) : T(reg) 1:1 co-culture: 58·9%±4·157%, n=10 versus mean DS inhibition in T(eff) :T(reg) 1:1 co-culture: 39·8±4·788%, n=10, P=0.0075; mean healthy control inhibition in T(eff) : T(reg) 1:0·5 co-culture: 45·10±5·858%, n=10 versus DS inhibition in T(eff) : T(reg) 1:0·5 co-culture: 24·10±5·517%, n=10, P=0.0177). DS people present an over-expressed peripheral nT(reg) population with a defective inhibitory activity that may partially explain the increased frequency of autoimmune disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.