Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.

doi:10.1073/pnas.2002051117

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Article

Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.

Proceedings of the National Academy of Sciences of the United States of America - 23 Jun 2020

Manthiram Kalpana, Preite Silvia, Dedeoglu Fatma, Demir Selcan, Ozen Seza, Edwards Kathryn M, Lapidus Sivia, Katz Alexander E, Feder Henry M, Lawton Maranda, Licameli Greg R, Wright Peter F, Le Julie, Barron Karyl S, Ombrello Amanda K, Barham Beverly, Romeo Tina, Jones Anne, Srinivasalu Hemalatha, Mudd Pamela A, DeBiasi Roberta L, Gül Ahmet, Marshall Gary S, Jones Olcay Y, Chandrasekharappa Settara C, Stepanovskiy Yuriy, Ferguson Polly J, Schwartzberg Pamela L, Remmers Elaine F, Kastner Daniel L

Abstract excerpt

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 n = 231) of individuals with PFAPA for common variants previously associated with two other oropharyngeal ulcerative...

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PMID: 32518111
DOI: 10.1073/pnas.2002051117
PMCID: PMC7322016

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Source receipt: pubmed, retrieved 7 Sept 2026.

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