Evidence map›Paper›PMID 35479070›Full record

ArticleFrontiers in immunology2022

Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?

Micaela Gentile, Maurizio Miano, Paola Terranova, Stefano Giardino, Maura Faraci, Filomena Pierri, Enrico Drago, Daniela Verzola, Gianmarco Ghiggeri, Enrico Verrina and 11 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 30% 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, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022
    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

21 authors at 6 institutions in 1 country.

Micaela GentileUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Maurizio MianoHematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Paola TerranovaHematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Stefano GiardinoHematopoietic Stem Cell Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Maura FaraciHematopoietic Stem Cell Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Filomena PierriHematopoietic Stem Cell Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Enrico DragoUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Daniela VerzolaDepartment of Internal Medicine and Medical Specialties, University of Genova, Genoa, Italy.
Gianmarco GhiggeriUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Enrico VerrinaDialysis Unit, Department of Pediatric, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Andrea AngelettiUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Barbara CafferataPathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Alice GrossiUnitá Operativa Semplice Dipartimentale (UOSD) Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Isabella CeccheriniUnitá Operativa Semplice Dipartimentale (UOSD) Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Gianluca CaridiLaboratory on Molecular Nephrology, Division of Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Francesca LuganiUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Lorenzo NescisUnitá Operativa (UO) of Nephrology, Dialysis, and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Martino, Genoa, Italy.
Enrico FiaccadoriDipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.
Luca LaninoDepartment of Oncology and Hematology, Humanitas Clinical and Research Center, Milan, Italy.
Daniela FenoglioBiotherapy Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Martino, Genoa, Italy.
Edoardo La PortaUnitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Istituto Giannina Gaslini · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity of Genoa · ITHumanitas University · ITOspedale di Parma · ITOspedale Policlinico San Martino · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The Forkhead box protein P3 (FOXP3) is a transcription factor central to the function of regulatory T cells (Treg). Mutations in the Method: We report rare cases with equivocal clinical associations that included inflammatory, kidney, and hematologic involvements screened with massively parallel sequencing techniques. Results: Two patients with hemizygous mutations of Conclusion: Two atypical associations of functional mutations of

Indexed as

Autoimmune DiseasesGenetic Diseases, X-LinkedGlomerulonephritis, MembranousChild, PreschoolFemaleForkhead Transcription FactorsHumansImmunoglobulin GMaleMutationT-Lymphocytes, RegulatoryForkhead Transcription FactorsFOXP3 protein, humanImmunoglobulin GALPSFOXP3IPEXmembranous glomerulopathyNGSregulatory T cells

Identifiers

PMID35479070
PMCPMC9035826
OpenAlexW4223569812

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.