Evidence map›Paper›PMID 40415209›Full record

ArticleEuropean journal of immunology2025

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.

Nic Robertson, Aakash Joshi, Francesca Ritchie, Ina Schim van der Loeff, David Royan, Angela L Duker, Gillian I Rice, Michael B Bober, Sahar Mansour, David I Campbell and 6 more

Abstract read
In one paragraph

Article in European journal of immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  2. Article
  3. 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

16 authors.

Nic RobertsonMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-2941-7526
Aakash JoshiSouth West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.
Francesca RitchieRoyal Hospital for Children and Young People, Edinburgh, UK.
Ina Schim van der LoeffGreat North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.
David RoyanRoyal Hospital for Children and Young People, Edinburgh, UK.
Angela L DukerNemours Children's Hospital, Wilmington, Delaware, USA.
Gillian I RiceDivision of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Michael B BoberNemours Children's Hospital, Wilmington, Delaware, USA.
Sahar MansourSouth West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.
David I CampbellGreat North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.
Mary BrennanRoyal Hospital for Children and Young People, Edinburgh, UK.
Lindsay BrownRoyal Hospital for Children and Young People, Edinburgh, UK.
Laura JonesRoyal Hospital for Children and Young People, Edinburgh, UK.
Eleri WilliamsGreat North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.
Andrew P JacksonMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Yanick J CrowMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Funding

Chief Scientist Office PCL2307European Research Council 786142European Research Council 788093Medical Research Council MC_UU_000035/10Medical Research Council MC_UU_00035/10Medical Research Council MC_UU_00035/11
6 · The paper itself

Abstract

Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.

Indexed as

ChilblainsInterferon Type IMutationRNA, UntranslatedFemaleHumansImmunity, InnateMaleSignal TransductionInterferon Type IRNA, Untranslatedinterferonopathyprimordial dwarfismRNU4ATAC‐opathyRoifman syndrome

Identifiers

PMID40415209
PMCPMC12104551

What OpenQuestion holds

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LicenceCC BY
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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.