Evidence map›Paper›PMID 41614062›Full record

ArticleJournal of human immunity2025

A heterozygous USB1 variant linked to immunodeficiency.

Alice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, Sara Mercurio, Margot Tragin, Nicolas Goudin, Mélanie Parisot, Monica Beltrame, Despina Moshous, Sven Kracker

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. 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

10 authors.

Alice ValagussaUniversité Paris Cité, Laboratory of Human Lympho-hematopoiesis, Imagine Institute, INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0009-0001-1809-7803
Nidia Moreno-CoronaUniversité Paris Cité, Laboratory of Human Lympho-hematopoiesis, Imagine Institute, INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0000-0001-5248-0454
Chantal Lagresle-PeyrouParis Cité University, Imagine Institute, Paris, France.ORCID https://orcid.org/0000-0002-2216-6453
Sara MercurioDipartimento di Biotecnologie e Bioscienze, Università degli Studi di Milano-Bicocca, Milan, Italy.ORCID https://orcid.org/0000-0003-3469-8323
Margot TraginBioinformatics Facilities (Structure Fédérative de Recherche Necker), Imagine Institute, INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0000-0003-1425-6480
Nicolas GoudinStructure Fédérative de Recherche Necker, INSERM-US24 CNRS-UAR3633, Necker Bioimage Analysis Platform, Paris, France.ORCID https://orcid.org/0000-0002-3967-4016
Mélanie ParisotGenomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cité University, Paris, France.ORCID https://orcid.org/0000-0003-4312-2035
Monica BeltrameDipartimento di Bioscienze, Università degli Studi di Milano, Milan, Italy.ORCID https://orcid.org/0000-0001-5094-3494
Despina MoshousDepartment of Pediatric Immunology, Hematology and Rheumatology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-6719-3693
Sven KrackerUniversité Paris Cité, Laboratory of Human Lympho-hematopoiesis, Imagine Institute, INSERM UMR 1163, Paris, France.ORCID https://orcid.org/0000-0003-4543-8236

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Poikiloderma with neutropenia is a genetic disorder characterized by skin abnormalities, nail dystrophy, bone anomalies, and neutropenia.

Identifiers

PMID41614062
PMCPMC12851572

What OpenQuestion holds

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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.