Evidence map›Paper›PMID 42120540›Full record

ArticleEuropean journal of human genetics : EJHG2026

Transcription-based identification of uncharacterized genes in the human immune response.

Emil E Vorsteveld, Simone Kersten, Charlotte Kaffa, Annet Simons, Peter A C 't Hoen, Mihai G Netea, Alexander Hoischen

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Emil E VorsteveldDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-8752-088X
Simone KerstenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Charlotte KaffaDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Annet SimonsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Peter A C 't HoenResearch Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-4450-3112
Mihai G NeteaResearch Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-2421-6052
Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Alexander.Hoischen@radboudumc.nl.ORCID 0000-0002-8072-4476

Funding

EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) 833247EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) 101156595EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) 779257Nederlandse Organisatie voor Wetenschappelijk Onderzoek (Netherlands Organisation for Scientific Research) 09150182310053Nederlandse Organisatie voor Wetenschappelijk Onderzoek (Netherlands Organisation for Scientific Research) 184.034.019
6 · The paper itself

Abstract

Host-pathogen interactions are shaped by the nature of the pathogen and by host-related factors. Human host responses can be characterized in microbe-stimulated immune cells using transcriptomics. We set out to characterize gene expression changes as a result of microbial in vitro stimulation in medium-cultured human primary immune cells, using four pathogen ligands representing bacteria (LPS and S. aureus), viruses (Poly(I:C)) and fungi (C. albicans) for 4 and 24 h, resulting in a total of 52 samples for analysis. We analyze the transcriptional changes on gene and pathway levels, highlighting common and distinct effects of pathogen stimulation. We highlight genes without a known function that were differentially expressed as a common effect of pathogen stimulation. Amongst those, we find uncharacterized genes such as KIAA0040 and CYRIA to be co-expressed with genes involved in innate immunity and downstream signaling from the PRRs, respectively. Further linking our differential expression data to IEI, we identify 901 variants in uncharacterized genes in a cohort of patients with rare immune disorders, prioritizing 5 candidate variants in 4 genes that could underlie these diseases. Our results therefore indicate a potential role of these genes in the human immune response and provide further candidate variants for rare immune-mediated diseases.

Indexed as

Host-Pathogen InteractionsImmunity, InnateTranscriptomeCandida albicansGene Expression ProfilingHumansInnate Immunity RecognitionStaphylococcus aureusTranscription, Genetic

Identifiers

PMID42120540
PMCPMC13342440

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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.