Evidence map›Paper›PMID 42170594›Full record

ArticleJournal of human immunity2026

Novel de novo dominant

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry and 7 more

Abstract read
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

17 authors.

Benjamin Fournier *Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-4189-996X
Léa Poirier *Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes, France.ORCID https://orcid.org/0009-0003-7400-8363
Vincent AbramowskiUniversité Paris Cité, Imagine Institute, Laboratory "Genome Dynamics in the Immune System," INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0000-0002-4953-5124
Etienne MerlinDepartment of Pediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.ORCID https://orcid.org/0000-0001-6527-7893
Hélène DeutschDepartment of Pediatric Onco-Hematology, University Hospital, Vandoeuvre-les-Nancy, France.ORCID https://orcid.org/0009-0005-3215-3452
Paul BastardPaediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-5926-8437
Isabelle CallebautSorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France.ORCID https://orcid.org/0000-0003-3124-887X
Capucine PicardPaediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-8788-5056
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0000-0002-2822-161X
Sébastien KüryNantes Université, CNRS, INSERM, l'institut du Thorax, Nantes, France.ORCID https://orcid.org/0000-0001-5497-0465
Stéphane BézieauNantes Université, CNRS, INSERM, l'institut du Thorax, Nantes, France.ORCID https://orcid.org/0000-0003-0095-1319
Monique FabreDepartment of Pathology, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-3081-2478
Martin CastellePaediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-9087-4411
Bénédicte Neven *Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-8941-0935
Despina Moshous *Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-6719-3693
Jean-Pierre de Villartay *Université Paris Cité, Imagine Institute, Laboratory "Genome Dynamics in the Immune System," INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0000-0001-5987-0463
Frédéric Ebstein *Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes, France.ORCID https://orcid.org/0000-0002-3729-7878

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectiveDespite significant advances, the molecular basis and thus patient-tailored therapeutic options for inborn errors of immunity remain unknown in a significant number of patients.

methodsWe investigated three patients from unrelated families with inborn errors of immunity and severe liver disease. Clinical, immunological, and histological (only in one patient for the latter) data were collected, and trio whole exome sequencing was performed.

resultsWhole exome sequencing identified heterozygous de novo variants in

conclusionDominant

Identifiers

PMID42170594
PMCPMC13177760

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.