Evidence map›Paper›PMID 41394892›Full record

ArticleJournal of human immunity2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.

Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Journal of human immunity · 2026
    Article
  3. AJournal of human immunity · 2026
    Article
  4. 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

33 authors.

Najiba AliouaStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Nathalie LambertStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Mathilde PuelStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Sylvain HaneinBioinformatic Platform, Institute of Genetic Diseases, Inserm U1163, Imagine, University of Paris Cité and Necker Federative Research Structure, Paris, France, EU.
Paul BastardPediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France, EU.
Mathieu FusaroImmunology Department Laboratory, Referral Medical Biology Laboratory, Institut Fédératif de Biologie, Toulouse University Hospital Center, France, EU.
Marie JaffrayDepartment of Pediatrics, Dieppe Hospital, Dieppe, France, EU.
Bernardita MedelLaboratory of Molecular Basis of Altered Immune Homeostasis, Imagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Lydia KhellafStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Yoann SeeleuthnerImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Mélodie PerinBioinformatic Platform, Institute of Genetic Diseases, Inserm U1163, Imagine, University of Paris Cité and Necker Federative Research Structure, Paris, France, EU.
Corinne JacquesStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Marlène PasquetDepartment of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, France, EU.
Laura OlivierDepartment of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, France, EU.
Fernando SepulvedaINFINITy, Toulouse Institute for Infectious and Inflammatory Diseases, Inserm U1291, CNRS U5051, University Toulouse III, Toulouse, France, EU.
Tom Le VoyerImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Aurélie CobatImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Patrick NitschkéBioinformatic Platform, Institute of Genetic Diseases, Inserm U1163, Imagine, University of Paris Cité and Necker Federative Research Structure, Paris, France, EU.
Lionel GalicierDepartment of Immunology, Timone Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille Immunopole, Marseille, France, EU.
Nicolas SchleinitzDepartment of Immunology, Timone Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille Immunopole, Marseille, France, EU.
Eric OksenhendlerImmunopathology Department, Saint-Louis Hospital, AP-HP, University of Paris Cité, Paris, France, EU.
Marion MalphettesImmunopathology Department, Saint-Louis Hospital, AP-HP, University of Paris Cité, Paris, France, EU.
Bénédicte NevenPediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France, EU.
Despina MoshousPediatric Immunology-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France, EU.
Felipe SuarezImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Claire FieschiImmunopathology Department, Saint-Louis Hospital, AP-HP, University of Paris Cité, Paris, France, EU.
Jean-Laurent CasanovaImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Geneviève de Saint BasileStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Guillaume DorvalLaboratory of Hereditary Kidney Diseases, Imagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Capucine PicardStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Jacinta BustamanteStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.
Peng ZhangImagine Institute, Inserm U1163, University of Paris Cité, Paris, France, EU.
Jérémie RosainStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France, EU.

Funding

Howard Hughes Medical Institute
6 · The paper itself

Abstract

Clinical laboratories searching for pathogenic variants focus mostly on the protein-coding region and corresponding essential splicing sites. Screening for variants in intronic regions requires dedicated bioinformatics tools and detailed experimental studies to confirm deleteriousness and pathogenicity. We report intronic variants in a cohort of eight patients from seven kindreds with unexplained inborn errors of immunity (IEI). Using ad hoc bioinformatics tools, we identified seven kindreds carrying three branchpoint variants at three loci (

Indexed as

branchpointgeneticsInborn error of immunityintronic variantspathogenicity

Identifiers

PMID41394892
PMCPMC12700597

What OpenQuestion 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 OpenQuestion graph.