Evidence map›Paper›PMID 30949166›Full record

Trial reportFrontiers in immunology2019

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.

Genni Enza Marcovecchio, Ileana Bortolomai, Francesca Ferrua, Elena Fontana, Luisa Imberti, Erika Conforti, Donato Amodio, Sonia Bergante, Giulia Macchiarulo, Veronica D'Oria and 10 more

Open access · goldAbstract readClinical TrialMulticenter Study
In one paragraph

Trial report in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 5% 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

66 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.

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  19. Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025
    Review
  20. Article

6 more citing papers are in PubMed but not listed here.

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

20 authors at 10 institutions in 2 countries.

Genni Enza MarcovecchioDivision of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Ileana BortolomaiDivision of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Francesca FerruaDivision of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Elena FontanaThe Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy.
Luisa ImbertiLaboratorio CREA (Centro di Ricerca Emato-oncologica AIL), ASST Spedali Civili of Brescia, Brescia, Italy.
Erika ConfortiDepartment of Pediatric Cardiac Surgery, IRCCS San Donato Milanese Hospital, San Donato Milanese, Milan, Italy.
Donato AmodioDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Sonia BerganteLaboratory of Stem Cells for Tissue Engineering, Istituto di Ricovero e Cura a Carattere Scientifico, Policlinico San Donato, Milan, Italy.
Giulia MacchiaruloDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Veronica D'OriaDepartment of Pediatric Cardiac Surgery, IRCCS San Donato Milanese Hospital, San Donato Milanese, Milan, Italy.
Francesca ContiUniversity Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Silvia Di CesareDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Georgia FousteriDivision of Immunology Transplantation and Infectious Diseases, Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Adriano CarottiDepartment of Pediatric Cardiac Surgery, IRCCS Bambino Gesú Children's Hospital, Rome, Italy.
Alessandro GiambertiDepartment of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
Pietro Luigi PolianiPathology Unit, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD, United States.
Caterina CancriniDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Anna VillaDivision of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Marita BosticardoDivision of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Bambino Gesù Children's Hospital · ITIRCCS Policlinico San Donato · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITIstituto di Ricovero e Cura a Carattere Scientifico San RaffaeleThe San Raffaele Telethon Institute for Gene Therapy · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITInstitute of Genetic and Biomedical Research · ITNational Institutes of Health · USUniversity of Brescia · ITUniversity of Rome Tor Vergata · IT

Funding

Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2M
6 · The paper itself

Abstract

The thymus plays a fundamental role in establishing and maintaining central and peripheral tolerance and defects in thymic architecture or AIRE expression result in the development of autoreactive lymphocytes. Patients with partial DiGeorge Syndrome (pDGS) and Down Syndrome (DS) present alterations in size and architecture of the thymus and higher risk to develop autoimmunity. We sought to evaluate thymic architecture and thymocyte development in DGS and DS patients and to determine the extent to which thymic defects result in immune dysregulation and T cell homeostasis perturbation in these patients. Thymi from pediatric patients and age-matched controls were obtained to evaluate cortex and medullary compartments, AIRE expression and thymocyte development. In the same patients we also characterized immunophenotype of peripheral T cells. Phenotypic and functional characterization of thymic and peripheral regulatory T (Treg) cells was finally assessed. Histologic analysis revealed peculiar alterations in thymic medulla size and maturation in DGS and DS patients. Perturbed distribution of thymocytes and altered thymic output was also observed. DGS patients showed lower mature CD4

Indexed as

DiGeorge SyndromeDown SyndromeThymus GlandT-Lymphocytes, RegulatoryCD8-Positive T-LymphocytesCell DifferentiationChildChild, PreschoolEpitheliumFemaleHumansInfantInfant, NewbornMaleDiGeorge syndromeDown syndromeregulatory T (Treg) cellsthymocytesthymus

Identifiers

PMID30949166
PMCPMC6436073
OpenAlexW2921900944

What OpenQuestion holds

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Registered trials

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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.