Deep immune phenotyping reveals similarities between aging, Down syndrome, and autoimmunity

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Follicular B Helper T Cells Express Cxc Chemokine Receptor 5, Localize to B Cell Follicles, and Support Immunoglobulin Production

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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

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Distinct Effector B Cells Induced by Unregulated Toll-like Receptor 7 Contribute to Pathogenic Responses in Systemic Lupus Erythematosus

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Variation in the Human Immune System Is Largely Driven by Non-Heritable Influences

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Down syndrome

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Toll-like receptor 7 (TLR7)–driven accumulation of a novel CD11c+ B-cell population is important for the development of autoimmunity

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Excessive production of interleukin 6/B cell stimulatory factor-2 in rheumatoid arthritis

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Bach Proteins Belong to a Novel Family of BTB-Basic Leucine Zipper Transcription Factors That Interact with MafK and Regulate Transcription through the NF-E2 Site

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A B-cell subset uniquely responsive to innate stimuli accumulates in aged mice

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Diversity, cellular origin and autoreactivity of antibody-secreting cell population expansions in acute systemic lupus erythematosus

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Elevated levels of endogenous IL-6 in systemic lupus erythematosus. A putative role in pathogenesis

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A clinically meaningful metric of immune age derived from high-dimensional longitudinal monitoring

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Complement receptor 2/CD21− human naive B cells contain mostly autoreactive unresponsive clones

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The ageing epigenome and its rejuvenation

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Induction of IL-17+ T Cell Trafficking and Development by IFN-γ: Mechanism and Pathological Relevance in Psoriasis

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Pro-inflammatory human Th17 cells selectively express P-glycoprotein and are refractory to glucocorticoids

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Th17 cells give rise to Th1 cells that are required for the pathogenesis of colitis

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Quantification of regulatory T cells in patients with systemic lupus erythematosus

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T‐helper 17 cells expand in multiple sclerosis and are inhibited by interferon‐β

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Trisomy 21 consistently activates the interferon response

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Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes

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Cytofkit: A Bioconductor Package for an Integrated Mass Cytometry Data Analysis Pipeline

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Estimation of the number of people with Down syndrome in the United States

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Activated memory B cell subsets correlate with disease activity in systemic lupus erythematosus: delineation by expression of CD27, IgD, and CD95.

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DiffCoEx: a simple and sensitive method to find differentially coexpressed gene modules

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Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

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Age-Associated B Cells with Proinflammatory Characteristics Are Expanded in a Proportion of Multiple Sclerosis Patients

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Natural T cells in the human liver: cytotoxic lymphocytes with dual T cell and natural killer cell phenotype and function are phenotypically heterogenous and include Vα24-JαQ and γδ T cell receptor bearing cells

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Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity

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Human memory T cells with a naive phenotype accumulate with aging and respond to persistent viruses

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CD4+CD25high T cell numbers are enriched in the peripheral blood of patients with rheumatoid arthritis

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Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

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Multivariate genomic scan implicates novel loci and haem metabolism in human ageing

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Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey

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The Janus Head of T Cell Aging – Autoimmunity and Immunodeficiency

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BACH transcription factors in innate and adaptive immunity

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A novel subset of memory B cells is enriched in autoreactivity and correlates with adverse outcomes in SLE

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β-Cell–Specific CD8 T Cell Phenotype in Type 1 Diabetes Reflects Chronic Autoantigen Exposure

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Precocious aging of the immune system in Down syndrome: Alteration of b lymphocytes, T-lymphocyte subsets, and cells with natural killer markers

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What people with Down Syndrome can teach us about cardiopulmonary disease

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Decrease of regulatory T cells in patients with systemic lupus erythematosus

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Memory Stem T Cells in Autoimmune Disease: High Frequency of Circulating CD8+ Memory Stem Cells in Acquired Aplastic Anemia

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An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation

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Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome

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Profiles of Lamina Propria T Helper Cell Subsets Discriminate Between Ulcerative Colitis and Crohnʼs Disease

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Multi-dimensional analysis identified rheumatoid arthritis-driving pathway in human T cell

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Detection and Characterization of CD8+ Autoreactive Memory Stem T Cells in Patients With Type 1 Diabetes

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Down syndrome, accelerated aging and immunosenescence

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Therapeutic Potential of Invariant Natural Killer T Cells in Autoimmunity

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Pathogenic, glycolytic PD-1+ B cells accumulate in the hypoxic RA joint

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Defective B-cell memory in patients with Down syndrome

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Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression

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FcgRIII engagement provides activating signals to NKT cells in antibody-induced joint inflammation

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Decreased Thymic Output Accounts for Decreased Naive T Cell Numbers in Children with Down Syndrome

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Early-Onset, Coexisting Autoimmunity and Decreased HLA-Mediated Susceptibility Are the Characteristics of Diabetes in Down Syndrome

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Plasma N-Glycome Signature of Down Syndrome

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Surface expression of CD39 identifies an enriched Treg‐cell subset in the rheumatic joint, which does not suppress IL‐17A secretion

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The autoimmune-predisposing variant of lymphoid tyrosine phosphatase favors T helper 1 responses

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Generation of switched memory B cells in response to vaccination in Down syndrome children and their siblings

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CXCR3 Identifies Human Naive CD8+ T Cells with Enhanced Effector Differentiation Potential

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CD8+NKT-like cells regulate the immune response by killing antigen-bearing DCs

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Quantitative, Phenotypical, and Functional Characterization of Cellular Immunity in Children and Adolescents With Down Syndrome

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The peripheral differentiation of human natural killer T cells

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Diminished CXCR5 expression in peripheral blood of patients with Sjögren's syndrome may relate to both genotype and salivary gland homing

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Trisomy 21 (Down's syndrome): Autoimmunity, aging and monoclonal antibody-defined T-cell abnormalities

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Down syndrome: is it really characterized by precocious immunosenescence?

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Dynamic Immune Phenotypes of B and T Helper Cells Mark Distinct Stages of T1D Progression

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A Prevalent CXCR3+ Phenotype of Circulating Follicular Helper T Cells Indicates Humoral Dysregulation in Children with Down Syndrome

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SYLARAS: A Platform for the Statistical Analysis and Visual Display of Systemic Immunoprofiling Data and Its Application to Glioblastoma

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Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia

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Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

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Investigating sex differences in T regulatory cells from cisgender and transgender healthy individuals and patients with autoimmune inflammatory disease: a cross-sectional study

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Biomarkers of ageing: Current state‐of‐art, challenges, and opportunities

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The immune system in Down Syndrome: Autoimmunity and severe infections

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Down Syndrome and Autoimmune Disease

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Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

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Universal transcriptomic hallmarks of mammalian ageing and mortality

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Interferon signaling promotes tolerance to chromosomal instability during metastatic evolution in renal cancer

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JAK inhibition decreases the autoimmune burden in Down syndrome

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FRTX-02, a selective and potent inhibitor of DYRK1A, modulates inflammatory pathways in mouse models of psoriasis and atopic dermatitis

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Down syndrome: insights into autoimmune mechanisms

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An evaluation of aging measures: from biomarkers to clocks

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Polyfunctional antibodies: a path towards precision vaccines for vulnerable populations

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Deciphering bone marrow engraftment after allogeneic stem cell transplantation in humans using single-cell analyses

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Integrated analysis of immunometabolic interactions in Down syndrome

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Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity

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Incidence and clinical outcomes of pneumonia in persons with down syndrome in the United States

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Technical Validation and Utility of an HLA Class II Tetramer Assay for Type 1 Diabetes: A Multicenter Study

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Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model

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Immune-aging is linked to clinical malignancy, racial ancestry, and vaccine responses in myeloma

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Defining a novel DYRK1A-gp130/IL-6R-pSTAT axis that regulates Th17 differentiation

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DYRK1A in blood and immune function: implications in leukemia, inflammatory disorders, infection and Down syndrome

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Intricacies of aging and Down syndrome

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Revisiting down syndrome through the lens of interferonopathy and innate immune dysregulation

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Interferons in Down syndrome: When more is less

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Tissue-origin transcriptomic interactions as indicators of inflammatory aging and aging gene discovery

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JAK inhibition decreases the autoimmune burden in Down syndromePreprint

Rachubinski, A. L., Wallace, E. B., Gurnee, E., Estrada, B. A. E., Worek, K. R., Smith, K. P., Araya, P., Waugh, K. A., Granrath, R. E., Britton, E. C., et al. (2024) · eLife · doi:10.7554/elife.99323.1 · Cited by 3 · see citing works

Identification of biomarkers for COVID-19 associated secondary hemophagocytic lymphohistiocytosisPreprint

Canny, S., Stanaway, I. B., Holton, S. E., Mitchem, M. A., O’Rourke, A. R., Pribitzer, S., Baxter, S. K., Wurfel, M. M., Malhotra, U., Buckner, J. H., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.13.607855 · Cited by 3 · see citing works

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society

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Frailty in Persons with Down Syndrome: Results from the REVIVIS Study

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Defective Immune Response to SARS-CoV-2 Immunization in Down Syndrome Correlates With Increased Susceptibility to Severe Illness With Infection

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Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome

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The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome

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Proteomic Analyses in COVID-19-Associated Secondary Hemophagocytic Lymphohistiocytosis

Canny, S., Stanaway, I. B., Holton, S. E., Mitchem, M. A., O’Rourke, A. R., Pribitzer, S., Baxter, S. K., Wurfel, M. M., Malhotra, U., Buckner, J. H., et al. (2025) · Critical Care Explorations · doi:10.1097/cce.0000000000001203 · Cited by 1 · see citing works

COVID‐19 hospitalization with later long COVID in a person with Down syndrome

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Sorting nexin 27–dependent regulation of Lck and CD4 tunes the initial stages of T-cell activation

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., & Mérida, I. (2024) · Journal of Leukocyte Biology · doi:10.1093/jleuko/qiae086 · Cited by 1 · see citing works

JAK inhibition decreases the autoimmune burden in Down syndromePreprint

Rachubinski, A. L., Wallace, E. B., Gurnee, E., Estrada, B. A. E., Worek, K. R., Smith, K. P., Araya, P., Waugh, K. A., Granrath, R. E., Britton, E. C., et al. (2024) · eLife · doi:10.7554/elife.99323.2 · Cited by 1 · see citing works

Is any point to be skeptical regarding individuals with Down syndrome who are admitted with COVID-19?Preprint

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Admission biomarkers may not have an association with cardiovascular involvement in Latin American patients with Multisystem Inflammatory Syndrome in Children (MIS-C)Preprint

Hayashi, J., González-Moctezuma, K., Tamez‐Rivera, O., & Villarreal-Treviño, A. V. (2023) · medRxiv · doi:10.1101/2023.06.13.23291351

Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Immunity & Ageing · doi:10.1186/s12979-023-00402-3

Reviewer #1 (Public Review): JAK inhibition decreases the autoimmune burden in Down syndrome

Rachubinski, A. L., Wallace, E., Gurnee, E., et al. (2024) · eLife · doi:10.7554/elife.99323.1.sa3

Author response: JAK inhibition decreases the autoimmune burden in Down syndrome

Rachubinski, A. L., Wallace, E. B., Gurnee, E., Estrada, B. A. E., Worek, K. R., Smith, K. P., Araya, P., Waugh, K. A., Granrath, R. E., Britton, E. C., et al. (2024) · eLife · doi:10.7554/elife.99323.1.sa0

Reviewer #3 (Public Review): JAK inhibition decreases the autoimmune burden in Down syndrome

Rachubinski, A. L., Wallace, E., Gurnee, E., et al. (2024) · eLife · doi:10.7554/elife.99323.1.sa1

eLife Assessment: JAK inhibition decreases the autoimmune burden in Down syndrome

O’Shea, J. J. (2024) · eLife · doi:10.7554/elife.99323.1.sa4

Reviewer #2 (Public Review): JAK inhibition decreases the autoimmune burden in Down syndrome

Rachubinski, A. L., Wallace, E., Gurnee, E., et al. (2024) · eLife · doi:10.7554/elife.99323.1.sa2

Immune-aging at diagnosis determines T-cell recovery in childhood leukemia survivors

Dhodapkar, K. M., Castellino, S. M., Kapadia, S., Azeem, M. I., Horvat, A., Lawrence, T., DeRyckere, D., & Dhodapkar, M. V. (2025) · npj Aging · doi:10.1038/s41514-025-00233-0

Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs

Frauenpreis, A., Bhattacharya, S., Belgacemi, R., Sokolskiy, P., Deutsch, G. H., Jendzjowsky, N. G., Glass, I. A., Mariani, T. J., Alam, D. A., & Danopoulos, S. (2025) · Cells · doi:10.3390/cells14231866

Additional file 1 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.24934184

Additional file 2 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.24934508

Additional file 4 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.26657809

Additional file 7 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.26657818

Additional file 6 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.26657815

Additional file 3 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.26657806

Additional file 5 of Partial loss of Sorting Nexin 27 resembles age- and Down syndrome-associated T cell dysfunctions

Rodríguez‐Rodríguez, C., González-Mancha, N., Ochoa-Echeverría, A., Liébana, R., & Mérida, I. (2024) · Figshare · doi:10.6084/m9.figshare.26657812

Erzhi pills: a potential aging-modulating agent targeting immunosenescence in mice

Fang, Z., Sun, W., Li, N., Shi, T., Ren, X., Zhang, R., Zhang, Y., Chen, J., Liu, Q., Wang, M., et al. (2026) · Biogerontology · doi:10.1007/s10522-026-10387-3

T-cell responses to primary SARS-CoV-2 vaccination in Down syndrome – From childhood to adulthood

Hensen, L. C. M., Streng, B. M. M., van Wijk, F., Nierkens, S., Wildenbeest, J., Bont, L., Delemarre, E. M., the PRIDE study group, van Binnendijk, R. S., van der Klis, F. R. M., et al. (2026) · Human Vaccines & Immunotherapeutics · doi:10.1080/21645515.2026.2670839

SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome

Elmetwalli, A., El-Sakka, S. A., Alzahrani, O. R., balawi, A. N. A., Salama, A. F., Hassan, M. G., Elsayed, A., Wael, D., Alaa, H., & El-Sewedy, T. (2026) · 3 Biotech · doi:10.1007/s13205-026-04879-9

Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society

Domenico, F. D., Marzia Perluigi, A., Tramutola, A., Bacalini, M. G., Victorino, D. B., Barroeta, I., Bartesaghi, R., Carfì, A., Carmona‐Iragui, M., Cohen, A. D., et al. (2026) · NeuroMolecular Medicine · doi:10.1007/s12017-026-08921-0

Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies

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Biomarkers of aging. Part 1. General state of the problem and approaches to assessing biological age

Зуева, М. В., Kotelin, V. I., Neroeva, N. V., Chesnokova, N. B., Zhuravleva, A. K., Balatskaya, N. V., & Ryabina, M. V. (2026) · Russian Ophthalmological Journal · doi:10.21516/2072-0076-2026-19-2-203-211

Immune Dysregulation in Down Syndrome: Implications for Infectious Susceptibility and Vaccine Response

Solari-Hernández, S., González-Madrid, E., González, P. A., Bueno, S. M., & Kalergis, A. M. (2026) · Journal of Clinical Immunology · doi:10.1007/s10875-026-02054-6

Progressive deterioration of adaptive immune repertoires in Down syndrome linked to interferon hyperactivity and lymphoid tissue disorganizationPreprint

Donovan, M. G., Eduthan, N. P., Niemeyer, B. F., Woods, E., Hoffmeyer, E., Jaeger, N., Britton, E. C., Grzywacz, B. J., Fernandez, J. J., Dumont, G. S., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.07.30.741516

HTP Whole Blood RNAseq (2020)

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B cells modulate Alzheimer’s disease-related pathology in a mouse model of Down syndromePreprint

Michaelovich, D., Fiomi, A. M., Rosenfeld, H., Israel-Cohen, J., & Okun, E. (2026) · Research Square · doi:10.21203/rs.3.rs-11401656/v1

Permutational immune analysis reveals architectural similarities between inflammaging, Down syndrome and autoimmunityPreprint

Lambert, K., Moo, K. G., Arnett, A., Goel, G., Flynn, K. J., Speake, C., WIEDEMAN, A. E., Greenbaum, C. J., Long, S. A., Partridge, R., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.13.460115

Trisomy 21 (Down's syndrome): Autoimmunity, aging and monoclonal antibody-defined T-cell abnormalities

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Down syndrome, accelerated aging and immunosenescence

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Partial Impairment of Immune Functions in Peripheral Blood Leukocytes from Aged Men with Down's Syndrome

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Inflammatory and Immunological parameters in adults with Down syndrome

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