Evidence map›Paper›PMID 37388727›Full record

ArticleFrontiers in immunology2023

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (

Nina Brauer, Yuto Maruta, Miriam Lisci, Katharina Strege, Ilske Oschlies, Hikari Nakamura, Svea Böhm, Kai Lehmberg, Leon Brandhoff, Stephan Ehl and 7 more

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

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 12% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. 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

17 authors at 8 institutions in 5 countries.

Nina BrauerDepartment of Pediatrics, Helios Klinikum, Krefeld, Germany.
Yuto MarutaDepartment of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan.
Miriam LisciDepartment of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Katharina StregeDepartment of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Ilske OschliesDepartment of Pathology, Haematopathology Section and Lymph Node Registry, University Hospitals Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany.
Hikari NakamuraDepartment of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan.
Svea BöhmDivision of Pediatric Stem Cell Transplantation and Immunology, Clinic of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
Kai LehmbergDivision of Pediatric Stem Cell Transplantation and Immunology, Clinic of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
Leon BrandhoffCologne Center for Genomics, University Hospital Cologne, Cologne, Germany.
Stephan EhlInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Nima ParvanehDivision of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Wolfram KlapperDepartment of Pathology, Haematopathology Section and Lymph Node Registry, University Hospitals Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany.
Mitsunori FukudaDepartment of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan.
Gillian M GriffithsDepartment of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Hans Christian HenniesCologne Center for Genomics, University Hospital Cologne, Cologne, Germany.
Tim NiehuesDepartment of Pediatrics, Helios Klinikum, Krefeld, Germany.
Sandra AmmannDepartment of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Tohoku University · JPUniversity of Cambridge · GBHelios Klinikum Krefeld · DEKiel University · DEUniversity Hospital Cologne · DEUniversity Medical Center Hamburg-Eppendorf · DEUniversity of Freiburg · DETehran University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH). Methods and results: Overall, family members presented with variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in Discussion: Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in

Indexed as

Acyl-CoA DehydrogenasesImmunologic Deficiency SyndromesLymphomaPrimary Immunodeficiency DiseasesBlisterEnergy MetabolismFructose-BisphosphataseGenotypeHumansrab27 GTP-Binding ProteinsACAD9 protein, humanAcyl-CoA DehydrogenasesFBP1 protein, humanFructose-BisphosphataseRAB27A protein, humanrab27 GTP-Binding ProteinsEpstein-Barr virusGriscelli syndrome type 2lymphomametabolic diseasesRAB27A-deficiency

Identifiers

PMID37388727
PMCPMC10303925
OpenAlexW4381792675

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.