Evidence map›Paper›PMID 34144109›Full record

ArticleThe Journal of allergy and clinical immunology2022

Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.

T Blaine Crowley, Ian M Campbell, Emily J Liebling, Michele P Lambert, Lorraine E Levitt Katz, Jennifer Heimall, Alice Bailey, Daniel E McGinn, Donna M McDonald McGinn, Kathleen E Sullivan

Open access · greenAbstract read
In one paragraph

Article in The Journal of allergy and clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 18% of its field
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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.Expert reviews in molecular medicine · 2026
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  6. Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025
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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

10 authors at 3 institutions in 1 country.

T Blaine CrowleyDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Ian M CampbellDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Emily J LieblingDivision of Rheumatology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Michele P LambertDivision of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Lorraine E Levitt KatzDivision of Endocrinol & Diabetes, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Jennifer HeimallDivision of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Alice BaileyDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Daniel E McGinnDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Donna M McDonald McGinnDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.
Kathleen E SullivanDivision of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address: sullivank@chop.edu.
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · USPhiladelphia University · US

Funding

Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GOLDMUNTZ, ELIZABETH · 2011 to 2020
$14.0M
Molecular Dissection of the 22q11.2 Deletion SyndromeR01GM125757 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2018 to 2024
$3.1M
2/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119737 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI MCDONALD-MCGINN, DONNA MARIE · 2019 to 2023
$2.4M
NICHD NIH HHS P01 HD070454NIGMS NIH HHS R01 GM125757NIMH NIH HHS U01 MH119737
6 · The paper itself

Abstract

backgroundIdentification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field.

objectivesWe sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome to define biomarkers associated with immune-mediated disease in this syndrome.

methodsChart review validated autoimmune disease and atopic condition diagnoses. Laboratory data were extracted for each subcohort and plotted according to age. A random-effects model was used to define statistical significance.

resultsCD19, CD4, and CD4/45RA lymphocyte populations were not different from the general cohort for patients with atopic conditions. CD4/45RA T cells were significantly lower in the subjects with immune thrombocytopenia compared with the general cohort, and CD4 T-cell counts were lower in patients with autoimmune thyroid disease.

conclusionsThe mechanisms of autoimmunity in cytopenias may be distinct from those of solid-organ autoimmunity in 22q11.2 deletion syndrome. This study identifies potential biomarkers for risk stratification among commonly obtained laboratory studies.

Indexed as

AdolescentAdultAutoimmune DiseasesCD4 Lymphocyte CountCD4-Positive T-LymphocytesChildChild, PreschoolDiGeorge SyndromeFemaleHumansHypersensitivity, ImmediateInfantMalePhenotypeYoung AdultatopyautoimmunityDiGeorgedysregulationhomeostatic proliferation

Identifiers

PMID34144109
PMCPMC11853714
OpenAlexW3171683359

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.