Evidence map›Paper›PMID 28493158›Full record

ArticleJournal of clinical immunology2017

Common Variable Immunodeficiency Caused by FANC Mutations.

Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida and 13 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.0field-weighted citation impact, top 26% 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

17 citing papers in PubMed, 22 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Article
  6. Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying aInternational journal of molecular sciences · 2022
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. Common Variable Immunodeficiency and Liver Involvement.Clinical reviews in allergy & immunology · 2018
    Review
  15. Review
  16. Article
  17. Article
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

23 authors at 7 institutions in 1 country.

Yujin SekinakaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Noriko MitsuikiDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Kohsuke ImaiDepartment of Pediatrics, National Defense Medical College, Saitama, Japan. kimai.ped@tmd.ac.jp.ORCID http://orcid.org/0000-0003-2132-8403
Miharu YabeDepartment of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
Hiromasa YabeDepartment of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
Kanako Mitsui-SekinakaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Kenichi HonmaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Masatoshi TakagiDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Ayako AraiDepartment of Hematology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Kenichi YoshidaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Yusuke OkunoCancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Yuichi ShiraishiLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Kenichi ChibaLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Hiroko TanakaLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Satoru MiyanoLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Hideki MuramatsuDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Seiji KojimaDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Asuka HiraLaboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto, Japan.
Minoru TakataLaboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto, Japan.
Osamu OharaDepartment of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shigeaki NonoyamaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Tokyo Medical and Dental University · JPKyoto University · JPNational Defense Medical College · JPThe University of Tokyo · JPNagoya University · JPTokai University · JPKazusa DNA Research Institute · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseMutationAdolescentAdultBiomarkersChildChild, PreschoolCommon Variable ImmunodeficiencyDiagnosis, DifferentialDNA Mutational AnalysisExome SequencingFanconi AnemiaFanconi Anemia Complementation Group D2 ProteinFanconi Anemia Complementation Group ProteinsFemaleantigen T cell receptor, eta-kappaBiomarkersFanconi Anemia Complementation Group D2 ProteinFanconi Anemia Complementation Group ProteinsReceptors, Antigen, T-CellCommon variable immunodeficiencyFanconi anemialymphopoiesisprimary immunodeficienciessignal joint kappa-deleting recombination excision circles (sjKRECs)T-cell receptor excision circles (TRECs)

Identifiers

PMID28493158
OpenAlexW2613646413

What OpenQuestion holds

Textmetadata
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.