Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of unknown genetic etiology typically characterized by recurrent fever episodes, pharyngitis, aphthous stomatitis and cervical lymphadenitis. The syndrome runs a benign course with fever ep...

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Bibliographic Details
Main Authors: Maria Michailou, Chryssoula Perdikogianni
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Children
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Online Access:https://www.mdpi.com/2227-9067/12/4/446
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Summary:Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of unknown genetic etiology typically characterized by recurrent fever episodes, pharyngitis, aphthous stomatitis and cervical lymphadenitis. The syndrome runs a benign course with fever episodes recurring in regular intervals and usually resolves around adolescence, even though, for a subset of patients, it persists through adulthood. It is considered a condition of multifactorial etiology, a syndrome that is triggered by environmental factors in genetically predisposed individuals. Increasing evidence points towards a correlation between monogenic autoinflammatory syndromes and PFAPA syndrome both in pathogenesis and therapeutic approaches. In this review, we present an update of the current literature on PFAPA and focus on new data on genetics of PFAPA and the association of PFAPA with other autoinflammatory diseases.
ISSN:2227-9067