Evidence map›Paper›PMID 41472683›Full record

ArticleResearch square2025

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in

Oskar Schnappauf, Hongying Wang, Qing Zhou, Vasily Burlakov, Anna Kozlova, David B Beck, Natalia Sampaio Moura, Natalie T Deuitch, Wanxia Li Tsai, Massimo Gadina and 9 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 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

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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

19 authors.

Oskar SchnappaufDepartment of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany.
Hongying WangInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Qing ZhouLiangzhu Laboratory, Zhejiang University, Hangzhou, China.
Vasily BurlakovDmitry Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anna KozlovaIlyinskaya Hospital, Moscow, Russia.
David B BeckCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Natalia Sampaio MouraInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Natalie T DeuitchInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Wanxia Li TsaiNational Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Massimo GadinaNational Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
Patrycja HoffmannInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Amanda K OmbrelloInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Victoria ZakharovaDmitry Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Amina KievaDmitry Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Elena RaikinaDmitry Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Federica RicucciDepartment of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany.
Daniel L KastnerInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
Anna ShcherbinaDmitry Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Ivona AksentijevichInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Type I interferonopathies are Mendelian inborn errors of immunity caused by defective clearance or recognition of nucleic acids, resulting in chronic type I interferon (IFN) activation. DNase II is a lysosomal endonuclease critical for degrading DNA during erythropoiesis and apoptosis. Biallelic loss-of-function variants in Methods: We performed exome and RNA sequencing to identify and validate variants. A minigene assay assessed splicing effects. DNase II activity was tested in cell lysates. Structural modeling, cytokine profiling, and immune stimulation assays were conducted to evaluate pathway activation and therapeutic response. Results: Both patients carried a homozygous Conclusion: We report a novel proximal intronic splice variant in

Indexed as

AutoinflammationDNASE2JAK-STAT signalingSplice site variantType I interferonopathy

Identifiers

PMID41472683
PMCPMC12747285

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.