Evidence map›Paper›PMID 33352647›Full record

ArticleBiomedicines2020

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.

Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

8 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Systematic and proactive evaluation of AIRE missense variant effects.bioRxiv : the preprint server for biology · 2025
    Article
  4. Article
  5. A novel heterozygous pathogenicJournal of human immunity · 2025
    Article
  6. Article
  7. Review
  8. 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

9 authors at 2 institutions in 1 country.

Luigia CinqueDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Cristina AngelettiUOC Pediatrics and Neonatology, POU AV2, 60122 Senigallia, Italy.
Alfredo OrricoMolecular Diagnosis and Characterization of Pathogenic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Stefano CastellanaUnit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Lucia FerritoUOC Pediatrics and Neonatology, POU AV2, 60122 Senigallia, Italy.
Cristina CiuoliDepartment of Medical, Surgical and Neurological Sciences, UOC Endocrinology, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Tommaso MazzaClinical Genetics, ASL Toscana SudEst. Ospedale della Misericordia, 58100 Grosseto, Italy.ORCID 0000-0003-0434-8533
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Vito GuarnieriDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Casa Sollievo della Sofferenza · ITAzienda Ospedaliera Universitaria Senese · IT

Funding

Italian Ministry of Health RC2020
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Addison diseaseAPS-1chronic hypoparathyroidismmucocutaneous candidiasisnext generation sequencing

Identifiers

PMID33352647
PMCPMC7767245
OpenAlexW3112583574

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.