Evidence map›Paper›PMID 36503523›Full record

ArticleAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2022

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.

Leonardo Oliveira Mendonça, Adriana Pitchon Dos Reis Chuster, Mayra Barros Dorna, Samar Freschi Barros, Janaina Baptista Alves, Victor Lucas Gonçalves, Ariana Campos Yang, Jorge Kalil, Myrthes Anna Maragna Toledo-Barros, Cristina Maria Kokron

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In one paragraph

Article in Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 48% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

10 authors at 2 institutions in 1 country.

Leonardo Oliveira Mendonça *Division of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil. leonardo.oliveira.mendonca@gmail.com.ORCID http://orcid.org/0000-0001-7533-1937
Adriana Pitchon Dos Reis Chuster *Division of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Mayra Barros DornaDivision of Allergy and Immunology, Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Samar Freschi BarrosLaboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, Brazil.
Janaina Baptista AlvesLaboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, Brazil.
Victor Lucas GonçalvesDepartment of Surgical Pathology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Ariana Campos YangDivision of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Jorge KalilDivision of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Myrthes Anna Maragna Toledo-BarrosDivision of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Cristina Maria KokronDivision of Clinical Immunology and Allergy, Hospital das Clinicas of the Faculdade de Medicina of the Universidade de São Paulo, Department of Internal Medicine, Universidade de São Paulo, Rua Dr. Enéas de Carvalho Aguiar, 255, 8th floor, São Paulo, 05403-000, Brazil.
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRUniversidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema. However many other clinical presentations lacking the triad above described have been reported what underpin the need of careful clinical suspicion, immunological evaluation and genetic sequencing. CASE PRESENTATION: Here we report a case of a Brazilian boy with severe eczema as the first and only presentation requiring cyclosporin therapy. Progressive and cumulative symptoms of arthritis and enteropathy lead to the suspicion of an inborn error of immunity. Peripheral FOXP3 expression was normal (CD127-/CD4+/CD25+/FOXP3+-396 cells-63%) and a pathogenic mutation in FOXP3 gene (c.1150G>A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome.

conclusionsIPEX syndrome should be suspected in patients presenting with severe eczema associated or not with other autoimmune/hyper inflammatory diseases in life. Our study also reinforces that FOXP3 expression by flowcytometry seems not to be a good screening method, and genetic sequencing is mandatory even in those with high suspicion and normal peripheral FOXP3 expression.

Identifiers

PMID36503523
PMCPMC9743487
OpenAlexW4311123028

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.