Evidence map›Paper›PMID 30872117›Full record

Trial reportThe Journal of allergy and clinical immunology2019

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

Mohammed F Alosaimi, Manfred Hoenig, Faris Jaber, Craig D Platt, Jennifer Jones, Jacqueline Wallace, Klaus-Michael Debatin, Ansgar Schulz, Eva Jacobsen, Peter Möller and 10 more

Open access · bronzeAbstract readClinical Trial
In one paragraph

Trial report in The Journal of allergy and clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 2% 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

54 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. 4-1BB immunotherapy: advances and hurdles.Experimental & molecular medicine · 2024
    Review
  15. Article
  16. Article
  17. When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases · 2023
    Review
  18. Review
  19. CD137 deficiency because of two novel biallelicClinical & translational immunology · 2023
    Article
  20. Genetic lesions and targeted therapy in Hodgkin lymphoma.Therapeutic advances in hematology · 2023
    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

20 authors at 6 institutions in 3 countries.

Mohammed F AlosaimiDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
Manfred HoenigDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Faris JaberDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass.
Craig D PlattDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass.
Jennifer JonesDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass.
Jacqueline WallaceDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass.
Klaus-Michael DebatinDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Ansgar SchulzDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Eva JacobsenDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
Peter MöllerInstitute of Pathology, University of Ulm, Ulm, Germany.
Hanan E ShamseldinDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ferdous AbdulwahabDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Niema IbrahimDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hosam AlardatiDepartment of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
Faisal AlmuhiziDepartment of Medicine, Security Force Hospital, Riyadh, Saudi Arabia.
Ibraheem F AbosoudahDepartment of Oncology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
Talal A BashaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
Janet ChouDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Raif S GehaDivision of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address: raif.geha@childrens.harvard.edu.
King Faisal Specialist Hospital & Research Centre · SABoston Children's Hospital · USUniversity Hospital Ulm · DEHarvard University · USSecurity Forces Hospital · SAUniversität Ulm · DE

Funding

STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI JONATHAN C KAGAN · 1986 to 2026
$32.4M
Mechanisms of a Novel Combined Immunodeficiency Caused by a Homozygous Mutation in COPG1R01AI139633 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI GEHA, RAIF SALIM · 2018 to 2022
$3.1M
Novel mechanisms of T cell costimulation: the role of LRRC8A in T cell activationK08AI116979 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI CHOU, JANET · 2015 to 2019
$934k
NIAID NIH HHS K08 AI116979NIAID NIH HHS R01 AI139633NIDDK NIH HHS P30 DK034854
6 · The paper itself

Abstract

backgroundThe tumor TNF receptor family member 4-1BB (CD137) is encoded by TNFRSF9 and expressed on activated T cells. 4-1BB provides a costimulatory signal that enhances CD8

objectiveWe investigated the genetic basis of recurrent sinopulmonary infections, persistent EBV viremia, and EBV-induced lymphoproliferation in 2 unrelated patients.

methodsWhole-exome sequencing, immunoblotting, immunophenotyping, and in vitro assays of lymphocyte and mitochondrial function were performed.

resultsThe 2 patients shared a homozygous G109S missense mutation in 4-1BB that abolished protein expression and ligand binding. The patients' CD8

conclusionThis novel immunodeficiency demonstrates the critical role of 4-1BB costimulation in host immunity against EBV infection.

Indexed as

Mutation, MissenseB-LymphocytesCD8-Positive T-LymphocytesChild, PreschoolEpstein-Barr Virus InfectionsExome SequencingFemaleHerpesvirus 4, HumanHumansLymphoproliferative DisordersMalePrimary Immunodeficiency DiseasesTumor Necrosis Factor Receptor Superfamily, Member 9TNFRSF9 protein, humanTumor Necrosis Factor Receptor Superfamily, Member 94-1BBCD137EBVHodgkin lymphomaimmunodeficiency

Identifiers

PMID30872117
PMCPMC6688916
OpenAlexW2921728659

What OpenQuestion holds

Textmetadata
LicenceTDM
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.