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Case Report: PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome with A Novel TNFAIP3 Mutation
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  • Ruina Kong,
  • Jiewen deng,
  • Hui Guo,
  • Jie Gao
Ruina Kong
Department of Rheumatology and Immunology, The First Affiliated Hospital of Naval Medical University

Corresponding Author:kongrn725@126.com

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Jiewen deng
Department of Cardiovascular Diseases, The First Affiliated Hospital of Naval Medical University, Shanghai
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Hui Guo
Department of Pharmacy, Shanghai Tenth People’s Hospital, Tongji University School of Medicine,
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Jie Gao
Department of Pharmacy, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai
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Abstract

background:Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome has been considered as a childhood syndrome. Its etiopathogeny is unknown however, currently considered as auto-immune inflammatory disease. Recently, a few cases of adult-onset of PFAPA syndrome have been reported. However, there is no report about the adult-onset of PFAPA case with a novel TNFAIP3 Mutation. Objective and Method: Followed by detailed clinical inquiry, related laboratory tests, genetic sequencing and treatment, we reported a case with the adult-onset of PFAPA syndrome with a novel TNFAIP3 Mutation. Results:we have found a novel mutation in the gene TNFAIP3 in an adult patient with periodic fever, aphthous stomatitis, pharyngitis, and adenitis—the PFAPA syndrome, under the environmental factor-COVID-19 vaccination. Conclusion:This case demonstrated adult-onset of PFAPA symptoms, including periodic fever of unknown origin, which can occur in adult patients with the familial hereditary TNFAIP3 mutation and environmental factors. And the therapeutic measures provide some reference and practical significance for the treatment of PFAPA syndrome. Keywords: adult-onset of PFAPA, TNF alpha induced protein 3, periodic fever, aphthous stomatitis, pharyngitis, adenitis, case report
Submitted to Immunity, Inflammation and Disease
Assigned to Editor
Reviewer(s) Assigned
Submission Checks Completed
01 Sep 2024Review(s) Completed, Editorial Evaluation Pending
01 Sep 2024Editorial Decision: Revise Minor
14 Sep 20241st Revision Received