Evidence map›Paper›PMID 34220820›Full record

ArticleFrontiers in immunology2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.

Steven Strubbe, Marieke De Bruyne, Ulrich Pannicke, Elien Beyls, Bart Vandekerckhove, Georges Leclercq, Elfride De Baere, Victoria Bordon, Anne Vral, Klaus Schwarz and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 47% of its field
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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Biomolecules · 2024
    Article
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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

12 authors at 5 institutions in 2 countries.

Steven StrubbeDepartment of Diagnostic Sciences, Ghent University, Ghent, Belgium.
Marieke De BruyneCenter for Medical Genetics Ghent (CMGG), Ghent, Belgium.
Ulrich PannickeThe Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Elien BeylsDepartment of Human Structure and Repair, Ghent University, Ghent, Belgium.
Bart VandekerckhoveDepartment of Diagnostic Sciences, Ghent University, Ghent, Belgium.
Georges LeclercqDepartment of Diagnostic Sciences, Ghent University, Ghent, Belgium.
Elfride De BaereCenter for Medical Genetics Ghent (CMGG), Ghent, Belgium.
Victoria BordonDepartment of Internal Medicine and Pediatrics, Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
Anne VralDepartment of Human Structure and Repair, Ghent University, Ghent, Belgium.
Klaus SchwarzThe Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Filomeen HaerynckPrimary Immunodeficiency Research Lab, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.
Tom TaghonDepartment of Diagnostic Sciences, Ghent University, Ghent, Belgium.
Ghent University Hospital · BECancer Research Institute Ghent · BEGhent University · BEGerman Red Cross · DEUniversität Ulm · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induce an abrogation of T lymphocyte development or function in which B and NK cells might be affected as well. Because of the increased availability and usage of next-generation sequencing (NGS), many novel variants in SCID genes are being identified and cause a heterogeneous disease spectrum. However, the molecular and functional implications of these new variants, of which some are non-coding, are often not characterized in detail. Using targeted NGS, we identified a novel homozygous c.465-1G>C splice acceptor site variant in the

Indexed as

DNA-Binding ProteinsDNA RepairEndonucleasesFemaleHumansInfantMutationPedigreeRNA SplicingSevere Combined ImmunodeficiencyV(D)J RecombinationDCLRE1C protein, humanDNA-Binding ProteinsEndonucleasesARTEMISDNA damage repairNGSSCIDV(D)J recombination

Identifiers

PMID34220820
PMCPMC8248492
OpenAlexW3176683702

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.