Evidence map›Paper›PMID 33995346›Full record

ArticleFrontiers in immunology2021

A Pathogenic Missense Variant in

Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Bodo Grimbacher

Open access · goldAbstract read
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 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 22% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Article
  4. Review
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  6. Review
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  10. DetrimentalFrontiers in immunology · 2022
    Article
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  12. Review
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  15. Observational
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

8 authors at 4 institutions in 1 country.

Manfred FliegaufInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Renate KrügerDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Sophie SteinerDepartment of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Leif Gunnar HanitschDepartment of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Sarah BüchelInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Volker WahnDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Horst von BernuthDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Bodo GrimbacherInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Charité - Universitätsmedizin Berlin · DEUniversity of Freiburg · DEGerman Center for Infection Research · DEVivantes Klinikum · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In common variable immunodeficiency (CVID), heterozygous damaging

Indexed as

Common Variable ImmunodeficiencyGermanyHaploinsufficiencyHEK293 CellsHeterozygoteHumansMutation, MissenseNF-kappa B p50 SubunitPedigreePhenotypeProtein BindingProtein TransportProteolysisNF-kappa B p50 SubunitNFKB1 protein, humanCommon Variable ImmunodeficiencyCVIDhypogammaglobulinemiaNF-kappa BNFKB1NF-κBnuclear factor kappa B subunit 1

Identifiers

PMID33995346
PMCPMC8115018
OpenAlexW3159539867

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.