Author

J. Espinosa

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Open access Aug 2026

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

Persons with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display strong dysregulation of adaptive immunity, which underlies high risk of complications from infections, widespread autoimmunity, and poor vaccine responses. However, the mechanisms by which T21 dysregulates adaptive immunity acros...

Micah G. Donovan, N. Eduthan, Brian F. Niemeyer et al. · bioRxiv · 0 citations

Open access Aug 2026

Altered follicular immunity in secondary lymphoid organs is associated with interferon hyperactivity in Down syndrome

Down syndrome, caused by trisomy 21, is characterized by chronic interferon-associated inflammation and immune dysregulation, yet the contribution of human secondary lymphoid organs to shaping this immune landscape remains unclear. Using multimodal single-cell and spatial profiling of human tonsils, we identify extensi...

J. Dutto, Jeremías Bustos, Lucía Boffelli et al. · bioRxiv · 0 citations

Review Aug 2026

Common data element (CDE) and AI-Enabled approaches for clinical data Management: Workshop proceedings from the NIH INCLUDE Project.

OBJECTIVE To evaluate challenges in managing multisite, longitudinal, and multisystem clinical data for Down syndrome (DS) research and identify approaches to improve standardization and reuse. METHODS This report summarizes the outcomes and lessons learned from a NIH workshop convened by the INCLUDE Project to align...

J. Espinosa, Kate Burdekin, J. Auman et al. · Journal of Biomedical Inform... · 0 citations