Evidence map›Paper›PMID 38913142›Full record

ReviewClinical reviews in allergy & immunology2024

Down Syndrome and Autoimmune Disease.

Brian Hom, Natalie K Boyd, Benjamin N Vogel, Nicole Nishimori, Mellad M Khoshnood, Saba Jafarpour, Deepti Nagesh, Jonathan D Santoro

Abstract readReview
In one paragraph

Review in Clinical reviews in allergy & immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  13. Calcineurin inhibition may prevent Alzheimer disease in people with Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Review
  14. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Brian HomKeck School of Medicine at the University of Southern California, Los Angeles, CA, USA.
Natalie K BoydDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Benjamin N VogelDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Nicole NishimoriDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Mellad M KhoshnoodDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Saba JafarpourDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Deepti NageshDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA.
Jonathan D SantoroDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS82, Los Angeles, CA90027, USA. jdsantoro@chla.usc.edu.ORCID http://orcid.org/0000-0002-8350-8234

Funding

Non-invasive biometric screening for cerebrovascular disorders in persons with Down syndrome.K23HL155898 · NHLBI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI SANTORO, JONATHAN DOUGLAS · 2021 to 2025
$1.3M
NHLBI NIH HHS K23 HL155898NHLBI NIH HHS K23HL155898
6 · The paper itself

Abstract

Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto's thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5-2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05-1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population.

Indexed as

Autoimmune DiseasesDown SyndromeAlopecia AreataAutoimmunityCeliac DiseaseHashimoto DiseaseHumansPrevalenceAutoimmunityChromosome 21Down syndromeImmune dysregulation

Identifiers

PMID38913142
PMCPMC11422465

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.