Evidence map›Paper›PMID 41608124›Full record

ReviewJournal of human immunity2026

The systemic effects of 22q11.2 deletion syndrome on immunity.

Nicolai S C van Oers, Kathleen E Sullivan

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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Expanding the scope of human immunology in theJournal of human immunity · 2026
    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

2 authors.

Nicolai S C van Oers *Departments of Immunology, Microbiology and Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID https://orcid.org/0000-0002-6545-8405
Kathleen E Sullivan *Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID https://orcid.org/0000-0002-3577-9021

Funding

Long noncoding RNAs and their contribution to 22q11.2 deletion syndromeR01AI114523 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI VAN OERS, NICOLAI STANISLAS CYRILLE · 2015 to 2024
$4.1M
NIAID NIH HHS R01 AI114523
6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11.2DS) affects about 1/2,150 individuals, causing complex and variably penetrant clinical problems. The clinical phenotypes evident at birth can include thymic hypoplasia, hypoparathyroidism, heart defects, and/or facial dysmorphism. Neurological issues including behavioral problems such as autism spectrum disorders and schizophrenia are evident at later postnatal periods. Thymic hypoplasia affects about 60-70% of patients, leading to T cell lymphopenias of varying severity. In rare cases, a congenital athymia occurs, necessitating a thymic implant. This review provides information regarding the causes and consequences of 22q11.2DS on thymic functions along with its broader impacts on the immune system. The affected immune cells include T, B, and mast cells. Patients with 22q11.2DS have more infectious, autoimmune, and allergic complications. Broader systemic changes including increased vascular permeability, a disrupted blood-brain barrier, and epigenetic alterations resulting from deletions on chromosome 22q11.2 affect many organ systems that can involve immune responses.

Identifiers

PMID41608124
PMCPMC12829759

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.