Evidence map›Paper›PMID 12296863›Full record

ArticleClinical and experimental immunology2002

X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.

A Tommasini, S Ferrari, D Moratto, R Badolato, M Boniotto, D Pirulli, L D Notarangelo, M Andolina

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In one paragraph

Article in Clinical and experimental immunology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

27 citing papers in PubMed, 97 citations in OpenAlex.

  1. Trial
  2. International journal of molecular sciences · 2026
    Review
  3. Sex differences in disease: sex chromosome and immunity.Journal of translational medicine · 2024
    Review
  4. Review
  5. Article
  6. Lung tumor-infiltrating TScience immunology · 2023
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Short stature in child with early-onset diabetes.European journal of pediatrics · 2013
    Article
  18. Article
  19. The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2010
    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

8 authors at 2 institutions in 1 country.

A TommasiniDepartment of Sciences of Reproduction and Development IRCCS Burlo Garofolo, Trieste, Italy. tommasin@burlo.trieste.it
S Ferrari
D Moratto
R Badolato
M Boniotto
D Pirulli
L D Notarangelo
M Andolina
IRCCS Materno Infantile Burlo Garofolo · ITUniversity of Brescia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX) is a serious disease arising from mutations in FOXP3. This gene codifies for a transcription factor whose dysfunction results in hyperactivation of T cells. It is not clear, however, why an intermediate phenotype is not seen in heterozygous females, who are completely healthy. In order to address this question, we investigated X-chromosome inactivation in peripheral blood lymphocytes from a heterozygous female with a child affected by IPEX. No preferential inactivation was shown in freshly sorted CD4+, CD8+, CD19+ cells or in IL-2 cultured CD4 and CD8 T cells, indicating that peripheral blood lymphocytes in these women are randomly selected. Moreover, only one single FOXP3 transcript was expressed by CD4 T cell clones analysed by RT-PCR, confirming that this gene is subject to X- inactivation. We hypothesize that hyper-activation of T cell in carriers of FOXP3 mutations is regulated by the presence of normal regulatory T cells.

Indexed as

Dosage Compensation, GeneticAdultAmino Acid SubstitutionChildDiabetes Mellitus, Type 1DiarrheaDNA-Binding ProteinsDNA Mutational AnalysisEndocrine System DiseasesFemaleForkhead Transcription FactorsGenotypeHeterozygoteHumansLymphocyte ActivationLymphocyte SubsetsDNA-Binding ProteinsForkhead Transcription FactorsFOXP3 protein, human

Identifiers

PMID12296863
PMCPMC1906506
OpenAlexW2088622301

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.