Evidence map›Paper›PMID 42459548›Full record

ReviewJournal of human immunity2026

Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome.

Melissa Gans, Juanita Valdes Camacho, Matthew Wyke, Kasama Manothummetha, Harry Lesmana, Jacqueline Squire, Joao Pedro Lopes, Erica G Schmitt, Hanadys Ale, Junghee J Shin and 4 more

Abstract readReview
In one paragraph

Review in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Melissa GansJackson Health System, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID https://orcid.org/0000-0002-3078-0998
Juanita Valdes CamachoLSU Health Shreveport, Shreveport, LA, USA.ORCID https://orcid.org/0009-0002-0251-1608
Matthew WykeJackson Health System, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID https://orcid.org/0009-0005-5785-4044
Kasama ManothummethaJackson Health System, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID https://orcid.org/0000-0002-2446-143X
Harry LesmanaCleveland Clinic, Cleveland, OH, USA.ORCID https://orcid.org/0000-0001-5496-3839
Jacqueline SquireMayo Clinic Jacksonville, Jacksonville, FL, USA.ORCID https://orcid.org/0000-0002-2600-1306
Joao Pedro LopesUH Rainbow Babies and Children's Hospital, Case Western Reserve University School of Medicine, Cleveland, OH, USA.ORCID https://orcid.org/0000-0002-9695-2932
Erica G SchmittWashington University in St. Louis School of Medicine, St. Louis, MO, USA.ORCID https://orcid.org/0000-0001-8878-0619
Hanadys AleMemorial Healthcare System, Hollywood, FL, USA.ORCID https://orcid.org/0009-0008-4583-1808
Junghee J ShinYale University, New Haven, CT, USA.ORCID https://orcid.org/0000-0002-4765-7988
Natalia ChaimowitzCook Children's Medical Center, Fort Worth, TX, USA.ORCID https://orcid.org/0000-0002-1240-6337
Carolyn BalohBrigham and Women's Hospital, Boston, MA, USA.ORCID https://orcid.org/0000-0003-4939-7160
Dusan BogunovicColumbia University Medical Center, New York, NY, USA.ORCID https://orcid.org/0000-0002-9277-3232
Joaquin EspinosaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz, Aurora, CO, USA.ORCID https://orcid.org/0000-0001-9048-1941

Funding

JAK Inhibition in Down SyndromeR33AR077495 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI BRUCKNER, ANNA LEE, ESPINOSA, JOAQUIN M. · 2022 to 2024
$4.4M
Understanding Down Syndrome as an InterferonopathyR01AI150305 · NIAID · UNIVERSITY OF COLORADO DENVER · PI ESPINOSA, JOAQUIN M. · 2019 to 2020
$3.5M
NIAID NIH HHS R01 AI150305NIAMS NIH HHS R33 AR077495
6 · The paper itself

Abstract

Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by lifelong immune dysregulation leading to high rates of autoimmune disorders, elevated risk of complications from infections, immune hypersensitivity, and a unique form of immunodeficiency. It is now appreciated that DS shares key hallmarks with interferonopathies, with vast remodeling of all branches of the immune system, hypercytokinemia, and widespread autoantibody production. Here within, we review the existing literature with an emphasis on clinical considerations toward monitoring, management, and therapeutic opportunities. We highlight recent research advances that illuminate diagnostic approaches to evaluate immune dysregulation in DS. We also discuss the evidence supporting specific immunomodulatory strategies that could have multidimensional benefits in this population, including JAK inhibitors, intravenous immunoglobulin, and B cell-depleting agents.

Identifiers

PMID42459548
PMCPMC13371443

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.