ArticleThe open rheumatology journal2013
MEFV Variants in Patients with PFAPA Syndrome in Japan.
Article in The open rheumatology journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 49 citations in OpenAlex.
- Validity of the Eurofever/PRINTO genetic FMF classification criteria in FMF and PFAPA patients carrying non-confirmatory MEFV gene mutations.Clinical rheumatology · 2026Article
- Colchicine treatment in PFAPA: how long should we wait for the clinical response?European journal of pediatrics · 2025Article
- Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update.Children (Basel, Switzerland) · 2025Review
- A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".The application of clinical genetics · 2025Article
- Altered serum antibody levels in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis.Archives of rheumatology · 2024Article
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Galectin-3: a new biomarker for differentiating periodic fever, adenitis, pharyngitis, aphthous stomatitis (PFAPA) syndrome from familial Mediterranean fever?Rheumatology international · 2022Observational
- PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background.Clinical rheumatology · 2021Review
- The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.Orphanet journal of rare diseases · 2021Article
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
- Independent risk factors for resolution of periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome within 4 years after the disease onset.Clinical rheumatology · 2021Article
- The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.European journal of pediatrics · 2021Article
- Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome; Is It a Separate Disease?Frontiers in pediatrics · 2021Article
- IL-1β blockade in periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: case-based review.Rheumatology international · 2021Review
- Autoinflammatory Diseases in ChildhoodBalkan medical journal · 2020Article
- Recurrence of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome after tonsillectomy: case-based review.Rheumatology international · 2019Review
- Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: main features and an algorithm for clinical practice.Rheumatology international · 2019Review
- Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences.Rheumatology international · 2019Review
- Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome persisting to adulthood - an example of a diagnostic and therapeutic challenge.Reumatologia · 2019Article
- Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.Journal of Korean medical science · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA. PATIENTS AND
methodsAll variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62).
resultsIn the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants.
conclusionGenes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.
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Registered trials
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