Evidence map›Paper›PMID 40170851›Full record

ArticleFrontiers in immunology2025

Functional insights of an uncommon hypomorphic variant in

Andrea González-Torbay, Keren Reche-Yebra, Álvaro Clemente-Bernal, Yolanda Soto Serrano, Luz Yadira Bravo-Gallego, Almudena Fernández López, Rebeca Rodríguez-Pena, María Bravo García-Morato, Eduardo López-Granados, Lucía Del Pino-Molina

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In one paragraph

Article in Frontiers in immunology, 2025. 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

10 authors.

Andrea González-TorbayCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
Keren Reche-YebraLymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research(IdiPAZ), Madrid, Spain.
Álvaro Clemente-BernalLymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research(IdiPAZ), Madrid, Spain.
Yolanda Soto SerranoLymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research(IdiPAZ), Madrid, Spain.
Luz Yadira Bravo-GallegoCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
Almudena Fernández LópezCenter for Biomedical Network Research on Rare Diseases (CIBERER U756), Madrid, Spain.
Rebeca Rodríguez-PenaCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
María Bravo García-MoratoCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
Eduardo López-GranadosCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
Lucía Del Pino-MolinaCenter for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Over the last decade, the identification of hypomorphic variants in patients previously diagnosed with Common Variable Immunodeficiency (CVID) has led to the association of milder phenotypes with variants of the Methods: Evaluation of the patient included a clinical examination and a complete analysis of the peripheral blood phenotype. To further explore Results: The patient presented reduced CD132 expression and conserved T- and B-cell proliferation capacity Conclusion: We conclude that p. (Pro58Thr) in the

Indexed as

CD4-Positive T-LymphocytesCommon Variable ImmunodeficiencyInterleukin Receptor Common gamma SubunitLymphopeniaAdultB-LymphocytesFemaleHumansKiller Cells, NaturalLymphocyte ActivationMaleSignal TransductionSTAT5 Transcription FactorIL2RG protein, humanInterleukin Receptor Common gamma SubunitSTAT5 Transcription Factorcommon cytokine receptor γ chainflow cytometry standardizationhypomorphic variantsIL2RG geneNK degranulationplasmablast differentiationSTAT3 and STAT5 phosphorylationT and B cell proliferation

Identifiers

PMID40170851
PMCPMC11958980

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.