Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.

Callie C Y Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Marie-Louise Frémond, Yanick J Crow

Abstract read

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

7 authors.

Callie C Y Wong *MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID https://orcid.org/0009-0002-0601-211X

Tifenn Wauquier *Laboratory of Neurogenetics and Neuroinflammation, Institute Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.ORCID https://orcid.org/0009-0000-0487-8361

Carolina UggentiMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID https://orcid.org/0000-0003-2673-5120

Colin StokMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID https://orcid.org/0000-0003-4736-5130

Alice LepelleyLaboratory of Neurogenetics and Neuroinflammation, Institute Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0001-8656-7291

Marie-Louise FrémondLaboratory of Neurogenetics and Neuroinflammation, Institute Imagine, INSERM UMR1163, Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0002-2798-9141

Yanick J CrowMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID https://orcid.org/0000-0001-7211-7564

Funding

European Research Council 786142Medical Research Council MC_UU_00035/11

6 · The paper itself

Abstract

Spondyloenchondrodysplasia (SPENCD) is a rare immuno-osseus disease due to biallelic mutations in

Identifiers

PMID41049574

DOI10.70962/jhi.20250035

PMCPMC7618195

What OpenQuestion holds

Textmetadata

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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.