ArticleProceedings of the National Academy of Sciences of the United States of America2020
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
3 registry-linked trialsOpen access · bronzeAbstract read
In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 59 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 4% of its field
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.
Reverse Phenotyping Core (RPC)
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.
- Surgical management for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome: a systematic review and meta-analysis.Jornal de pediatriaPooled it
- 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
- Oral aphthosis in children: baseline clinical features associated with diagnostic categories in a single-centre retrospective cohort.European journal of pediatrics · 2026Article
- 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
- Causal Effects of Oral Microbiome, Circulating Metabolites, and Inflammatory Proteins on Recurrent Aphthous Stomatitis: A Two-Sample Mendelian Randomization Study.Oral health & preventive dentistry · 2026Article
- 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
- Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept.World journal of pediatrics : WJP · 2026Review
- Casting light on the potential connection: exploring the relationship between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and Behҫet in the Druze population in Israel.Orphanet journal of rare diseases · 2026Article
- Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.RMD open · 2026Article
- A Case-Based Literature Review of RELA Associated Inflammatory Diseases.Journal of clinical immunology · 2026Review
- Vaccination coverage, immune responses, and clinical characteristics in children with PFAPA syndrome: a monocentric prospective study.Pediatric rheumatology online journal · 2025Article
- Syndrome of undifferentiated recurrent fever (SURF): a multicenter real-world experience from Türkiye.Clinical rheumatology · 2025Observational
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome in Children-From Pathogenesis to Treatment Strategies: A Comprehensive Review.Paediatric drugs · 2025Review
- The role of epigenetic modifications in systemic autoinflammatory diseases.Current opinion in immunology · 2025Review
- The first proteomics analysis of tonsils in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA).Pediatric research · 2025Article
- Colchicine efficacy on oral ulcers caused by Behçet's spectrum disorders including idiopathic recurrent aphthous stomatitis, PFAPA, and Behçet's Disease.European journal of pediatrics · 2025Article
- Features Associated with Response to Tonsillectomy in Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome in Children.The Journal of pediatrics · 2025Article
- Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update.Children (Basel, Switzerland) · 2025Review
- Deficiency of Adenosine Deaminase 2 Masquerading as Behçet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.Journal of clinical immunology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 10 institutions in 3 countries.
Kalpana ManthiramNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; kalpana.manthiram@nih.gov dan.kastner@nih.gov.ORCID 0000-0001-6451-8173
Silvia PreiteNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Fatma DedeogluDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Selcan DemirDepartment of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.ORCID 0000-0002-4320-8632
Seza OzenDepartment of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.ORCID 0000-0003-2883-7868
Kathryn M EdwardsDepartment of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.ORCID 0000-0003-3912-9832
Sivia LapidusDivision of Pediatric Rheumatology, Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Hackensack, NJ 07601.ORCID 0000-0001-8452-9937
Alexander E KatzNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0001-9706-9490
Genomic Ascertainment Cohort
Henry M FederDepartment of Pediatrics, Connecticut Children's Medical Center, Hartford, CT 06106.
Maranda LawtonDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Greg R LicameliDepartment of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Peter F WrightDepartment of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756.
Julie LeNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Karyl S BarronNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.ORCID 0000-0002-6925-6130
Amanda K OmbrelloNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Beverly BarhamNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Tina RomeoNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Anne JonesNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Hemalatha SrinivasaluDivision of Pediatric Rheumatology, Children's National Hospital, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010.ORCID 0000-0001-6714-4170
Pamela A MuddDivision of Pediatric Otolaryngology, Children's National Hospital, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010.
Roberta L DeBiasiDivision of Pediatric Infectious Diseases, Children's National Hospital, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010.
Ahmet GülDepartment of Internal Medicine, Division of Rheumatology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
Gary S MarshallDepartment of Pediatrics, University of Louisville School of Medicine, Louisville, KY 40202.
Olcay Y JonesDivision of Pediatric Rheumatology, Walter Reed National Military Medical Center, Bethesda, MD 20889.
Settara C ChandrasekharappaNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Yuriy StepanovskiyDepartment of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy of Postgraduate Education, 04112 Kiev, Ukraine.
Polly J FergusonDepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242.
Pamela L SchwartzbergNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Elaine F RemmersNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Daniel L KastnerNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; kalpana.manthiram@nih.gov dan.kastner@nih.gov.
National Institutes of Health · USBoston Children's Hospital · USGeorge Washington University · USHacettepe University · TRUniversity of Iowa · USUniversity of Louisville · USConnecticut Children's Medical Center · USDartmouth–Hitchcock Medical Center · USHackensack Meridian Health · USVanderbilt University · US
Funding
Genetic Analysis of Complex Inflammatory DisordersZIAHG200371 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2024
$18.8MGenetic and Biochemical Approaches to Tyrosine Kinase and Lymphocyte SignalingZIAAI001240 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SCHWARTZBERG, PAMELA · 2019 to 2025
$18.8MGenetics, Natural History, and Pathophysiology of Behcet's DiseaseZIAHG200374 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2020
$10.5MMedical Research Council MC_PC_19009
Abstract
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. We queried two European-American cohorts and one Turkish cohort (total
Indexed as
Genetic Predisposition to DiseaseAllelesBehcet SyndromeChildCohort StudiesFeverGenes, MHC Class IGenes, MHC Class IIGenetic LociHumansLymphadenitisPharyngitisPolymorphism, Single NucleotideRisk FactorsStomatitis, AphthousSyndromeaphthous ulcersBehçet’s diseaseperiodic feverPFAPAtonsillitis
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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.