Evidence map›Paper›PMID 17690954›Full record

ArticleJournal of clinical immunology2007

The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006.

Donn M Stewart, Fabio Candotti, David L Nelson

Abstract readConference Proceedings
PubMed Publisher
In one paragraph

Article in Journal of clinical immunology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
2.1field-weighted citation impact, top 14% 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

21 citing papers in PubMed, 50 citations in OpenAlex.

  1. Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025
    Review
  2. Somatic mosaicism in genetic errors of immunity.The Journal of allergy and clinical immunology · 2025
    Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Review
  8. Review
  9. Review
  10. Review
  11. Review
  12. Review
  13. Laboratory diagnosis of primary immunodeficiencies.Clinical reviews in allergy & immunology · 2014
    Review
  14. Article
  15. Article
  16. Revertant mosaicism in skin: natural gene therapy.Trends in molecular medicine · 2011
    Review
  17. Review
  18. Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models.Molecular therapy : the journal of the American Society of Gene Therapy · 2009
    Article
  19. Article
  20. 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

3 authors at 2 institutions in 1 country.

Donn M StewartImmunophysiology Section, Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. dstew@helix.nih.gov
Fabio Candotti
David L Nelson
National Institutes of Health · USNational Human Genome Research Institute · US

Funding

Gene Therapy Approaches for Primary ImmunodeficienciesZIAHG000122 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CANDOTTI, FABIO · 2009 to 2014
$6.5M
GENE THERAPY APPROACHES FOR PRIMARY IMMUNODEFICIENCIESZ01HG000122 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CANDOTTI, FABIO · 1998 to 2008
$3.2M
6 · The paper itself

Abstract

The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease caused by mutations in the Wiskott-Aldrich Protein (WASP) gene, which typically leads to absent WASP protein expression in WAS leukocytes. However, some patients have been found with small populations of WASP-expressing cells caused by reverse or second-site mutations that allow protein expression. An international consortium was established to further investigate these phenomena. This paper summarizes data collected by this consortium that was presented at a workshop held during the XIIth Meeting of the European Society for Immunodeficiencies (ESID), October, 2006. WASP reversions were noted in approximately 11% of 272 patients tested. Many different cell lineages showed reversions. These data form the foundation for further investigation into this phenomenon, which has implications for therapy of this disease.

Indexed as

AdolescentAdultCell LineageChildChild, PreschoolEuropeHumansInfantMosaicismMutationSocieties, MedicalWiskott-Aldrich SyndromeWiskott-Aldrich Syndrome ProteinWiskott-Aldrich Syndrome Protein

Identifiers

PMID17690954
OpenAlexW2072170133

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.