ArticlePloS one2014
Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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
20 citing papers in PubMed, 28 citations in OpenAlex.
- Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation.BMJ case reports · 2026Article
- Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome.Current issues in molecular biology · 2023Article
- Gene×environment interactions in autism spectrum disorders.Current topics in developmental biology · 2023Review
- Associations and Disease-Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review.Viruses · 2022Review
- Article
- Altered nociceptive behavior and emotional contagion of pain in mouse models of autism.Genes, brain, and behavior · 2022Article
- Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.Journal of neuroinflammation · 2021Article
- m6A regulator-mediated RNA methylation modification patterns are involved in immune microenvironment regulation of periodontitis.Journal of cellular and molecular medicine · 2021Article
- FXTAS presents with upregulation of the cytokines IL12 and TNFα.Parkinsonism & related disorders · 2021Article
- The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders.Journal of personalized medicine · 2020Review
- Article
- The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls.Current research in toxicology · 2020Article
- Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome.BMC neurology · 2020Article
- Repurposing Fragile X Drugs to Inhibit SARS-CoV-2 Viral Reproduction.Frontiers in cell and developmental biology · 2020Article
- Adult Fmr1 knockout mice present with deficiencies in hippocampal interleukin-6 and tumor necrosis factor-α expression.Neuroreport · 2017Article
- Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.Croatian medical journal · 2017Article
- What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?The Clinical neuropsychologist · 2016Review
- Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.Nature reviews. Neurology · 2016Review
- The role of the immune system in triplet repeat expansion diseases.Mediators of inflammation · 2015Review
- Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Intractable & rare diseases research · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene. To determine whether an abnormal immune profile was present at a cellular level that may predispose female carriers to autoinflammatory conditions, we investigated dynamic cytokine production following stimulation of blood cells. In addition, splenocyte responses were examined in an FMR1 CGG knock-in mouse model of the fragile X premutation.
methodsHuman monocyte and peripheral blood leukocytes (PBLs) were isolated from the blood of 36 female FMR1 premutation carriers and 15 age-matched controls. Cells were cultured with media alone, LPS or PHA. In the animal model, splenocytes were isolated from 32 CGG knock-in mice and 32 wild type littermates. Splenocytes were cultured with media alone or LPS or PMA/Ionomycin. Concentrations of cytokines (GM-CSF, IL-1β, IL-6, IL-10, IL-13, IL-17, IFNγ, TNFα, and MCP-1) were determined from the supernatants of cellular cultures via Luminex multiplex assay. Additionally, phenotypic cellular markers were assessed on cells isolated from human subjects via flow cytometry.
resultsWe found decreases in cytokine production in human premutation carriers as well as in the FMR1 knock-in mice when compared with controls. Levels of cytokines were found to be associated with CGG repeat length in both human and mouse. Furthermore, T cells from human premutation carriers showed decreases in cell surface markers of activation when compared with controls.
conclusionsIn this study, FMR1 CGG repeat expansions are associated with decreased immune responses and immune dysregulation in both humans and mice. Deficits in immune responses in female premutation carriers may lead to increased susceptibility to autoimmunity and further research is warranted to determine the link between FMR1 CGG repeat lengths and onset of autoinflammatory conditions.
Indexed as
Identifiers
What OpenQuestion holds
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.