Evidence map›Paper›PMID 36466816›Full record

ArticleFrontiers in immunology2022

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Nora Pernaa, Salla Keskitalo, Iftekhar Chowdhury, Antti Nissinen, Virpi Glumoff, Riikka Keski-Filppula, Juhani Junttila, Kari K Eklund, Wenny Santaniemi, Sanna Siitonen and 5 more

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

Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Tissue-Resident Memory T Cells in Allergy.Clinical reviews in allergy & immunology · 2024
    Review
  5. Review
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

15 authors at 4 institutions in 2 countries.

Nora PernaaResearch Unit of Biomedicine, University of Oulu, Oulu, Finland.
Salla KeskitaloMolecular Systems Biology Group, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Iftekhar ChowdhuryMolecular Systems Biology Group, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Antti NissinenResearch Unit of Biomedicine, University of Oulu, Oulu, Finland.
Virpi GlumoffResearch Unit of Biomedicine, University of Oulu, Oulu, Finland.
Riikka Keski-FilppulaPEDEGO Research Unit, University of Oulu, Oulu, Finland.
Juhani JunttilaResearch Unit of Internal Medicine, Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.
Kari K EklundDepartment of Rheumatology, Inflammation Center, University of Helsinki and Helsinki University Hospital and Orton Orthopedic Hospital, Helsinki, Finland.
Wenny SantaniemiOulun University Hospital and Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
Sanna SiitonenDepartment of Clinical Chemistry, University of Helsinki and HUSLAB, Helsinki University Hospital, Helsinki, Finland.
Mikko Rj SeppänenRare Disease Center and Pediatric Research Center, Children and Adolescents; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Paula VähäsaloPEDEGO Research Unit, University of Oulu, Oulu, Finland.
Markku VarjosaloMolecular Systems Biology Group, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Pirjo ÅströmResearch Unit of Biomedicine, University of Oulu, Oulu, Finland.
Timo HautalaInfectious Diseases, Oulu University Hospital and Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
University of Oulu · FIUniversity of Helsinki · FIOulu University Hospital · FIInvalidisäätiö · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Krüppel-like factor 2 (KLF2) is a transcription factor with significant roles in development, maturation, differentiation, and proliferation of several cell types. In immune cells, KLF2 regulates maturation and trafficking of lymphocytes and monocytes. KLF2 participates in regulation of the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathway. Although pulmonary arterial hypertension (PAH) related to KLF2 genetic variant has been suggested, genetic role of KLF2 associated with immune dysregulation has not been described. We identified a family whose members suffered from lymphopenia, autoimmunity, and malignancy. Whole exome sequencing revealed a KLF2 p.(Glu318Argfs*87) mutation disrupting the highly conserved zinc finger domain. We show a reduced amount of KLF2 protein, defective nuclear localization and altered protein-protein interactome. The phenotypically variable positive cases presented with B and T cell lymphopenia and abnormalities in B and T cell maturation including low naive T cell counts and low CD27

Indexed as

LymphopeniaPremature BirthFemaleHumansJanus KinasesKruppel-Like Transcription FactorsSignal TransductionSTAT Transcription FactorsZincZinc FingersJanus KinasesKruppel-Like Transcription FactorsSTAT Transcription FactorsZincautoimmunityimmune dysregulationinborn error in immunityjuvenile idiopathic arthritislymphocyte traffickingmaturationrheumatoid arthritis

Identifiers

PMID36466816
PMCPMC9716311
OpenAlexW4309460205

What OpenQuestion holds

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LicenceCC BY
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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.