Evidence map›Paper›PMID 42099922›Full record

ArticleJournal of human immunity2026

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

Nidia Moreno-Corona, Alice Valagussa, Lucie Poggi, Orestes Lopez-Ortega, Cécile Masson, Mohammed Zarhrate, Alexis Bertrand, Capucine Picard, Patrick Revy, Damien Bodet and 5 more

Abstract read
PubMed Full text at PMC Publisher
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. Not yet cited in PubMed.

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

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

15 authors.

Nidia Moreno-CoronaLaboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-5248-0454
Alice ValagussaLaboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0009-0001-1809-7803
Lucie PoggiLaboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-8229-2339
Orestes Lopez-OrtegaINSERM UMR-S1151, CNRS UMR-S8253, Institut Necker Enfants Malades, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-0319-1661
Cécile MassonBioinformatics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-7870-7821
Mohammed ZarhrateGenomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-5821-2629
Alexis BertrandLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue Contre le Cancer, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-8952-7375
Capucine PicardLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-8788-5056
Patrick RevyLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue Contre le Cancer, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0003-0758-8022
Damien BodetCHU de Caen Normandie, Onco-Immunohématologie Pédiatrique, Caen, France.ORCID https://orcid.org/0000-0002-7162-1723
Jérémie RougerCHU de Caen Normandie, Onco-Immunohématologie Pédiatrique, Caen, France.
Martin CastelleDepartment of Pediatric Immuno-Haematology and Rheumatology, Reference Center for Rheumatic, AutoImmune and Systemic Diseases in Children, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0000-0001-9087-4411
Alain FischerFrench National Reference Center for Primary Immune Deficiencies, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0000-0003-4025-5983
Marie-Françoise O'DonohueMCD, Centre de Biologie Intégrative, University de Toulouse, CNRS, Toulouse, France.ORCID https://orcid.org/0000-0002-1204-8285
Sven KrackerLaboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0003-4543-8236

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ribosomopathies are rare genetic disorders associated with abnormalities in the production and function of ribosomes. We describe here our study of a patient presenting with hypogammaglobulinemia and autism spectrum disorder. Genetic analyses revealed compound-heterozygous variants in the

Identifiers

PMID42099922
PMCPMC13148477

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.