Evidence map›Paper›PMID 37477760›Full record

ArticleJournal of clinical immunology2023

Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.

Benedikt J Meyer, Natalia Kunz, Sayuri Seki, Rebecca Higgins, Adhideb Ghosh, Robin Hupfer, Adrian Baldrich, Julia R Hirsiger, Annaïse J Jauch, Anne-Valérie Burgener and 13 more

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
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  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Circulating MicroRNAs and Cytokines Associated with Celiac Disease.Middle East journal of digestive diseases · 2024
    Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors at 5 institutions in 3 countries.

Benedikt J MeyerImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Natalia KunzImmunobiology Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Sayuri SekiAIDS Research Center, National Institute of Infectious Diseases, Tokyo, Japan.
Rebecca HigginsDermatology, University Hospital Basel, Basel, Switzerland.
Adhideb GhoshDermatology, University Hospital Basel, Basel, Switzerland.
Robin HupferImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Adrian BaldrichImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Julia R HirsigerTranslational Immunology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Annaïse J JauchImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Anne-Valérie BurgenerImmunobiology Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Jonas LötscherImmunobiology Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Markus AschwandenDepartment of Angiology, University Hospital Basel, Basel, Switzerland.
Michael DickenmannClinic for Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland.
Mihaela StegertRheumatology Clinic, University Hospital Basel, Basel, Switzerland.
Christoph T BergerTranslational Immunology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Thomas DaikelerRheumatology Clinic, University Hospital Basel, Basel, Switzerland.
Ingmar HeijnenDivision Medical Immunology, Laboratory Medicine, University Hospital Basel, Basel, Switzerland.
Alexander A NavariniDermatology, University Hospital Basel, Basel, Switzerland.
Christoph RudinUniversity Children's Hospital, University of Basel, Basel, Switzerland.
Hiroyuki YamamotoImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Claudia KemperComplement and Inflammation Research Section, CIRS, DIR, NHLBI, NIH, Bethesda, USA.
Christoph HessImmunobiology Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Mike RecherImmunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland. mike.recher@usb.ch.ORCID http://orcid.org/0000-0002-9121-6936
University Hospital of Basel · CHBoard of the Swiss Federal Institutes of Technology · CHNational Institute of Infectious Diseases · JPUniversity of Basel · CHUniversity of Cambridge · GB

Funding

The role of the intracellular complement system - the complosome - in Th1 biologyZIAHL006223 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KEMPER, CLAUDIA · 2017 to 2025
$16.9M
Intramural NIH HHS ZIA HL006223
6 · The paper itself

Abstract

Mutations in CD46 predispose to atypical hemolytic uremic syndrome (aHUS) with low penetrance. Factors driving immune-dysregulatory disease in individual mutation carriers have remained ill-understood. In addition to its role as a negative regulator of the complement system, CD46 modifies T cell-intrinsic metabolic adaptation and cytokine production. Comparative immunologic analysis of diseased vs. healthy CD46 mutation carriers has not been performed in detail yet. In this study, we comprehensively analyzed clinical, molecular, immune-phenotypic, cytokine secretion, immune-metabolic, and genetic profiles in healthy vs. diseased individuals carrying a rare, heterozygous CD46 mutation identified within a large single family. Five out of six studied individuals carried a CD46 gene splice-site mutation causing an in-frame deletion of 21 base pairs. One child suffered from aHUS and his paternal uncle manifested with adult-onset systemic lupus erythematosus (SLE). Three mutation carriers had no clinical evidence of CD46-related disease to date. CD4

Indexed as

FamilyHaploinsufficiencyAdultChildCytokinesHealth StatusHeterozygoteHumansMembrane Cofactor ProteinCD46 protein, humanCytokinesMembrane Cofactor ProteinaHUSatypical hemolytic uremic syndromeCD46haploinsufficiencyInborn errors of immunitynext-generation sequencingpenetranceprimary immunodeficiency complementSLEsystemic lupus erythematosus

Identifiers

PMID37477760
PMCPMC10661731
OpenAlexW4384922353

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.