Evidence map›Paper›PMID 25988833›Full record

ArticleScientific reports2015

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Silvio Alessandro Di Gioia, Nicola Bedoni, Annette von Scheven-Gête, Federica Vanoni, Andrea Superti-Furga, Michaël Hofer, Carlo Rivolta

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% 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

42 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.

  1. Pooled it
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  15. Article
  16. Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.JID innovations : skin science from molecules to population health · 2023
    Review
  17. Article
  18. Synchronous disease onset and flares in siblings with PFAPA.Pediatric rheumatology online journal · 2022
    Article
  19. Article
  20. New insights on multigenic autoinflammatory diseases.Therapeutic advances in musculoskeletal disease · 2022
    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

7 authors at 2 institutions in 1 country.

Silvio Alessandro Di GioiaDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Nicola BedoniDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Annette von Scheven-GêtePediatric Rheumatology Unit of Western Switzerland, Department of Pediatrics, CHUV, University Hospital of Lausanne, Lausanne, Switzerland.
Federica VanoniPediatric Rheumatology Unit of Western Switzerland, Department of Pediatrics, CHUV, University Hospital of Lausanne, Lausanne, Switzerland.
Andrea Superti-FurgaDepartment of Pediatrics, CHUV, University Hospital of Lausanne, Lausanne, Switzerland.
Michaël Hofer1] Pediatric Rheumatology Unit of Western Switzerland, Department of Pediatrics, CHUV, University Hospital of Lausanne, Lausanne, Switzerland [2] Department of Pediatrics, HUG, Geneva, Switzerland.
Carlo RivoltaDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
University Hospital of Lausanne · CHUniversity of Lausanne · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors.

Indexed as

Adaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsBase SequenceCarrier ProteinsCells, CulturedChildFemaleFeverGenome-Wide Association StudyHereditary Autoinflammatory DiseasesHumansLymphadenitisMaleNLR Family, Pyrin Domain-Containing 3 ProteinNLR ProteinsPharyngitisAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsCarrier ProteinsNLR Family, Pyrin Domain-Containing 3 ProteinNLRP1 protein, humanNLRP3 protein, humanNLR Proteins

Identifiers

PMID25988833
PMCPMC4437314
OpenAlexW2240325740

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.