Evidence map›Paper›PMID 25821352›Full record

ArticleMediators of inflammation2015

Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.

Daša Perko, Maruša Debeljak, Nataša Toplak, Tadej Avčin

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

Article in Mediators of inflammation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
2.7field-weighted citation impact, top 10% 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

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

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  17. New insights on multigenic autoinflammatory diseases.Therapeutic advances in musculoskeletal disease · 2022
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  18. Review
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  20. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review.World journal of otorhinolaryngology - head and neck surgery · 2021
    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

4 authors at 3 institutions in 3 countries.

Daša PerkoDepartment of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Bohoričeva 20, 1000 Ljubljana, Slovenia.
Maruša DebeljakUnit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Center, Bohoričeva 20, 1000 Ljubljana, Slovenia.
Nataša ToplakDepartment of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Bohoričeva 20, 1000 Ljubljana, Slovenia ; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Tadej AvčinDepartment of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Bohoričeva 20, 1000 Ljubljana, Slovenia ; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Ljubljana University Medical Centre · SIChildren's Clinical University Hospital · LVUniversity Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

Indexed as

Carrier ProteinsChildChild, PreschoolCytoskeletal ProteinsDNA-Binding ProteinsFemaleFeverGenetic BackgroundHumansInfantLongitudinal StudiesLymphadenitisMaleMutationNLR Family, Pyrin Domain-Containing 3 ProteinPharyngitisAIM2 protein, humanCarrier ProteinsCytoskeletal ProteinsDNA-Binding ProteinsMEFV protein, humanNLR Family, Pyrin Domain-Containing 3 ProteinNLRP3 protein, humanPyrin

Identifiers

PMID25821352
PMCPMC4364074
OpenAlexW2048819076

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.