ReviewJournal of clinical immunology2020
Inborn Errors of Adaptive Immunity in Down Syndrome.
Review in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation.Frontiers in immunology · 2026Pooled it
- Early Thymectomy Is Associated With Long-Term Impairment of the Immune System: A Systematic Review.Frontiers in immunology · 2021Pooled it
- T-cell responses to primary SARS-CoV-2 vaccination in Down syndrome - From childhood to adulthood.Human vaccines & immunotherapeutics · 2026Observational
- Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.Journal of human immunity · 2026Review
- Transplantation outcomes in patients with Down syndrome-associated acute lymphoblastic leukaemia: Implications for treatment intensity and the use of novel therapies.British journal of haematology · 2026Article
- Genetic disorders and congenital anomalies in Nigeria: a scoping review.Journal of community genetics · 2026Review
- T-cell responses to SARS-CoV-2 vaccinations in adults with Down syndrome - a prospective cohort study.Human vaccines & immunotherapeutics · 2025Observational
- Virtual Reality-Based Therapy Can Enhance Balance and Muscular Endurance in Children and Adolescents with Down Syndrome: A Systematic Review with a Meta-Analysis.Bioengineering (Basel, Switzerland) · 2024Review
- On the Therapeutic Use of Monoclonal Antibodies Against Amyloid Plaques in Older Adults with Down Syndrome: A Narrative Review and Perspective.Brain sciences · 2024Review
- Down Syndrome in Children: A Primary Immunodeficiency with Immune Dysregulation.Children (Basel, Switzerland) · 2024Article
- Acute postoperative complications after spine deformity correction in patients with Down syndrome.Journal of children's orthopaedics · 2024Article
- Article
- Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect.Frontiers in immunology · 2024Article
- Expression profile of inflammasome genes in individuals with Down syndrome.Genetics and molecular biology · 2024Article
- Periodontal disease in down syndrome: Predisposing factors and potential non-surgical therapeutic approaches.Journal of clinical laboratory analysis · 2024Review
- Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.Translational psychiatry · 2023Observational
- Analysis for trends in disease burden of congenital birth defects among children under 5 years old in China.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Article
- Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder.Research square · 2023Article
- Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome.Immunity · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Down syndrome fits an immunophenotype of combined immunodeficiency with immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity, autoinflammatory diseases, and hematologic malignancies. Qualitative and quantitative alterations in innate and adaptive immunity are found in most individuals with Down syndrome. However, there is substantial heterogeneity and no correlation between immunophenotype and clinical presentation. Previously, it was thought that the immunological changes in Down syndrome were caused by precocious aging. We emphasize in this review that the immune system in Down syndrome is intrinsically different from the very beginning. The overexpression of specific genes located on chromosome 21 contributes to immunodeficiency and immunodysregulation, but gene expression differs between genes located on chromosome 21 and depends on tissue and cell type. In addition, trisomy 21 results in gene dysregulation of the whole genome, reflecting the complex nature of this syndrome in comparison to well-known inborn errors of immunity that result from monogenic germline mutations. In this review, we provide an updated overview focusing on inborn errors of adaptive immunity in Down syndrome.
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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.