ReviewClinical rheumatology2021
PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background.
Review in Clinical rheumatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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.
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.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Colchicine versus cimetidine: the better choice for Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome prophylaxis, and the role of MEFV gene mutations.Pediatric rheumatology online journal · 2022Trial
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: An Updated Review with Current Insights into Pathogenesis and Therapeutic Strategies.Children (Basel, Switzerland) · 2026Review
- Allergic but not autoimmune comorbidities in children with PFAPA: A nationwide matched case-control cohort study.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-AssociatedChildren (Basel, Switzerland) · 2026Article
- Exploring the significance of vitamin D insufficiency in the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: a single-center retrospective assessment during the decade 2014-2024.Internal and emergency medicine · 2025Article
- Understanding PFAPA Syndrome in Palestine: A Retrospective Cohort Analysis of Epidemiological and Clinical Data.Mediterranean journal of rheumatology · 2025Article
- Neglected adult PFAPA syndrome.Radiology case reports · 2025Article
- Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update.Children (Basel, Switzerland) · 2025Review
- Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease.Frontiers in pediatrics · 2024Article
- Adult-onset Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome Responsive to Colchicine.Internal medicine (Tokyo, Japan) · 2023Article
- A Potential Partnership between Genetics and the Oral Microbiome in Children Displaying Periodic Fever/Aphthosis/Pharyngitis/Adenitis Syndrome.International journal of molecular sciences · 2023Article
- Challenges in the diagnosis of periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome in developing countries-A decade of experience from North India.Frontiers in immunology · 2022Review
- New insights on multigenic autoinflammatory diseases.Therapeutic advances in musculoskeletal disease · 2022Review
- PFAPA Syndrome: Clinical, Laboratory and Therapeutic Features in a Single-Centre Cohort.International journal of general medicine · 2022Article
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome: A Single-Center Experience.Turkish archives of pediatrics · 2022Article
- Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome.Frontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory disorder with an uncertain origin. PFAPA manifestations occur in the form of regular attacks accompanied by a rise in inflammatory markers. Regarding the family clustering of PFAPA and its similarities with other autoinflammatory disorders such as familial Mediterranean fever, a genetic basis is suggested for the disease. Studies have conducted genome analysis in order to find possible gene variants in PFAPA. Associations with variations in several genes such as MEFV, NLRP, TNFRSF1A, CARD15/NOD2, and MVK have been suggested and analyzed. Inflammasomes, intracellular proteins that are members of innate immunity and activate interleukin-1b (IL-1b) and IL-18, are proposed to be involved in PFAPA pathogenesis. The investigations show that a single gene cannot be found in association with PFAPA, and that it might have a multifactorial or polygenic basis, in which an environmental trigger can provoke inflammasome activation and activate PFAPA flares.
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Registered trials
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.