Evidence map›Paper›PMID 39055713›Full record

ArticleFrontiers in immunology2024

Impaired B-cell function in

Raphael Rossmanith, Kai Sauerwein, Christoph B Geier, Alexander Leiss-Piller, Roman F Stemberger, Svetlana Sharapova, Robert W Gruber, Helmut Bergler, James W Verbsky, Krisztian Csomos and 2 more

Abstract read
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Antibody Deficiency in Xeroderma Pigmentosum.Journal of clinical immunology · 2026
    Article
  3. Review
  4. 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

12 authors.

Raphael RossmanithImmunology Outpatient Clinic, Vienna, Austria.
Kai SauerweinImmunology Outpatient Clinic, Vienna, Austria.
Christoph B GeierImmunology Outpatient Clinic, Vienna, Austria.
Alexander Leiss-PillerImmunology Outpatient Clinic, Vienna, Austria.
Roman F StembergerImmunology Outpatient Clinic, Vienna, Austria.
Svetlana SharapovaResearch Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.
Robert W GruberDepartment of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria.
Helmut BerglerDoctoral School Molecular Biology and Biochemistry, Institute of Molecular Biosciences, University of Graz, Graz, Austria.
James W VerbskyDepartments of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.
Krisztian CsomosDivision of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Jolan E WalterDivision of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Hermann M WolfImmunology Outpatient Clinic, Vienna, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Trichothiodystrophy-1 (TTD1) is an autosomal-recessive disease and caused by mutations in Objective: The aim of this study was to perform extended molecular and immunological phenotyping in patients suffering from TTD1. Methods: Cellular immune phenotype was investigated using multicolor flow cytometry. DNA repair efficiency was evaluated in UV-irradiation assays. Furthermore, early BCR activation events and proliferation of TTD1 lymphocytes following DNA damage induction was tested. In addition, we performed differential gene expression analysis in peripheral lymphocytes of TTD1 patients. Results: We investigated three unrelated TTD1 patients who presented with recurrent infections early in life of whom two harbored novel Conclusion: In summary, our analyses confirmed the pathogenicity of novel

Indexed as

B-LymphocytesMutationXeroderma Pigmentosum Group D ProteinAdolescentChildChild, PreschoolDNA RepairFemaleHumansLymphocyte ActivationMaleTrichothiodystrophy SyndromesERCC2 protein, humanXeroderma Pigmentosum Group D Proteinantibody deficiencyB-cell activationDNA repair deficiencyERCC2nucleotide excision repairprimary immunodeficiencytrichothiodystrophyXPD

Identifiers

PMID39055713
PMCPMC11269123

What OpenQuestion holds

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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.