Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition
Open accessAbstract
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. However, the clinical impacts of interferon hyperactivity in DS are ill-defined. Here, we describe a multiomics investigation of interferon signaling in hundreds of individuals with DS. Using interferon scores derived from the whole blood transcriptome, we defined the proteomic, immune, metabolic, and clinical features associated with interferon hyperactivity in DS. Interferon hyperactivity associates with a distinct proinflammatory phenotype and dysregulation of major growth signaling and morphogenic pathways. Individuals with the highest interferon activity display the strongest remodeling of the peripheral immune system, including increased cytotoxic T cells, B cell depletion, and monocyte activation. Interferon hyperactivity accompanies key metabolic changes, most prominently dysregulated tryptophan catabolism. High interferon signaling stratifies a subpopulation with elevated rates of congenital heart disease and autoimmunity. Last, a longitudinal case study demonstrated that JAK inhibition normalizes interferon signatures with therapeutic benefit in DS. Together, these results justify the testing of immune-modulatory therapies in DS.
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Dysregulated interferon signaling is observed across multiple Ts21 organ systems.
“Given the dysregulated interferon signaling observed across multiple Ts21 organ systems (62, 63), we characterized the expression of interferon receptors, along with downstream interferon response genes.”
From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [63]
The Results section, “JAK inhibition attenuates hyperactive IFN signaling across multiple organs” (page unavailable), reports elevated IFN-response signatures in heart, lung, liver, and brain tissues. Those organ-level findings come from Dp16 mice, a segmental-duplication model of Down syndrome, rather than direct observations across multiple human Ts21 organs; the human analyses used blood samples. (LLM, conf=0.86)
Experimental — accuracy not yet measuredBoth individuals with DS and mouse models of DS experience constitutive hyperactivation of interferon (IFN) signaling with signs of chronic inflammation and immune dysregulation, which could exacerbate the neuroinflammatory response.
“Notably, both individuals with DS and mouse models of DS experience constitutive hyperactivation of interferon (IFN) signaling with signs of chronic inflammation and immune dysregulation,30,31,32,33,34,35,36,37,38,39,40 that could exacerbate the neuroinflammatory response.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [39]
Accumulating evidence supports the classification of DS as a multisystem interferonopathy.
“Accumulating evidence supports the classification of DS as a multisystem interferonopathy (62, 63, 75).”
From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [63]
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Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold
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JAK inhibition in Down Syndrome Regression Disorder
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Self-citationMolecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex
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Altered hepatic metabolism in Down syndrome
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Self-citationIntegrated analysis of immunometabolic interactions in Down syndrome
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Self-citationMalignant progression of preleukemic disorders
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Efficacy of Ruxolitinib in Severe Pediatric Intra‐Alveolar Hemorrhages Unrelated to COPA Mutations
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Self-citationClinical considerations for immune dysregulation and immunodeficiency in Down syndrome
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Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndromePreprint
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Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndromePreprint
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Self-citationSimple Worm, Complex Disorder: Studying Down Syndrome Mechanisms in the Unassuming Model C. elegans
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NF-κB signaling directs a program of transient amplifications at innate immune response genesPreprint
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Self-citationMechanistic insights into Down syndrome comorbidities via convergent RNA-seq and TWAS signalsPreprint
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Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs
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ORION: An agentic reasoning construct for the analysis of complex human immune profilingPreprint
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Precision medicine for Alzheimer's disease in Down syndrome
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RegRegSEA: a web server for regulatory region set enrichment analysis of epigenomic data
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Imaging findings in pediatric interferonopathies
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Self-citationAberrant chromatin remodeling influences human neural cell fate change in Trisomy 21Preprint
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Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies
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Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context‐Dependent Patterns
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Metaproteomic portrait of the gut microbiome in children with Down syndromePreprint
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Periodontitis and Alzheimer's disease, common pathways in down syndrome
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Self-citation
- Authors
- Galbraith, M. D., Rachubinski, A. L., Smith, K. P., Araya, P., Waugh, K. A., Enriquez-Estrada, B., Worek, K., Granrath, R. E., Kinning, K. T., Paul Eduthan, N., Ludwig, M. P., Hsieh, E. W. Y., Sullivan, K. D., & Espinosa, J. M.
- Affiliations
- University of Colorado Anschutz (US)
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
- Corresponding author
- Galbraith, Matthew D.
- Rachubinski, Angela L.
- Smith, Keith P.
- Espinosa, Joaquin M.
- ORCID
- Venue
- Science Advances
- Published
- 2023-06-30
- Volume
- 9
- Issue
- 26
- Pages
- eadg6218-eadg6218
- ISSN
- 2375-2548 (ISSN-L)
- PMC
- PMC10306300
- OpenAlex
- W4382361750
- Cited by
- 88
- References
- 79
- Citations by year
- 2026: 33 · 2025: 29 · 2024: 26
- FWCI
- 22.78
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Science Advances (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Eli Lilly and Company
- Boettcher Foundation
- Gilead Sciences
- Global Down Syndrome Foundation
- National Institutes of Health (UL1TR002535, P 30CA046934)
- National Cancer Institute (P30CA046934, T32CA190216)
- National Institute of Allergy and Infectious Diseases (R01AI145988, R01AI150305)
- National Center for Advancing Translational Sciences
- University of Colorado School of Medicine, Anschutz Medical Campus (P30CA046934)
- Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Anschutz Medical Campus
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Immunology and Microbiology › Immunology › interferon and immune responses
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Down syndrome, interferon signaling, interferonopathies, JAK inhibition, interferon score, whole blood transcriptome, tryptophan catabolism, congenital heart disease, autoimmunity, pro-inflammatory phenotype, immunomodulatory therapy, cytotoxic T lymphocytes, B-cell depletion, monocyte activation
- MeSH terms
- Down Syndrome, Humans, Interferons, Signal Transduction, Autoimmunity, Proteomics
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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