Abstract
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most prevalent pediatric autoinflammatory syndrome. For unexplained reasons tonsillectomy induces remission. The etiology of PFAPA is unknown; however, mutations of TNF receptor superfamily 1A (TNFRSF1A) and elevated circulating TNF-a have been described in some patients.
Highlights
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most prevalent pediatric autoinflammatory syndrome
total RNA was extracted from tonsil punch biopsies
Transcriptome analyses identified several genes involved in innate immune response
Summary
1) To identify transcriptomic or microbial signatures specific for PFAPA tonsils vs controls; 2) to determine the presence and distribution of TNFRSF1A in tonsils of patients with PFAPA and the control population
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