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Tonsil Mycobiome in PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) Syndrome: A Case-Control Study
Mysore V Tejesvi1,2,3, Terhi Tapiainen2,4,5, Petri Vänni3,4
1Ecology and Genetics, Faculty of Science, University of Oulu, Oulu, Finland.
Insights
The tonsillar mycobiome in children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome (PFAPA) does not differ from healthy controls. This study found no significant fungal microbiome differences linked to PFAPA.
Area of Science:
- Microbiology
- Immunology
- Pediatrics
Background:
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis Syndrome (PFAPA) is a common childhood autoinflammatory disorder.
- Previous research indicated differences in the bacterial tonsil microbiome in PFAPA patients.
- The role of fungal communities (mycobiome) in inflammatory conditions is an emerging area of research.
Purpose of the Study:
- To investigate the potential role of the tonsillar mycobiome in the pathogenesis of PFAPA.
- To compare the fungal microbiome composition in tonsils of children with PFAPA and healthy controls.
Main Methods:
- Tonsil samples were collected from 30 children with PFAPA and 22 controls.
- Fungal DNA was analyzed using amplicon sequencing.
- Machine learning (Random Forest classification) was employed to analyze mycobiome data and assess diagnostic potential.
Main Results:
- A total of 103 fungal amplicon sequence variants were identified, primarily from Ascomycota and Basidiomycota phyla.
- No statistically significant difference was observed in the overall tonsillar mycobiome composition between PFAPA cases and controls.
- The classification model using mycobiome data showed no ability to differentiate between PFAPA and controls (AUC = 0.47).
Conclusions:
- The tonsillar mycobiome composition does not appear to be significantly altered in children with PFAPA syndrome.
- Fungal microbiome analysis did not provide a diagnostic marker for PFAPA in this study.
- Further research may be needed to explore other potential microbial or host factors in PFAPA pathogenesis.
Abstract:
Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in children with unknown etiology, effectively treated with tonsillectomy. Earlier we have shown that tonsil microbiome is different in patients with PFAPA as compared to that in controls. Recently, fungal microbiome, mycobiome, has been linked to the pathogenesis of inflammatory diseases. We now investigated the role of mycobiome of tonsils in PFAPA. Random forest classification, a machine learning approach, was used for the analysis of mycobiome data. We examined tonsils from 30 children with PFAPA and 22 control children undergoing tonsillectomy for non-infectious reasons. We identified 103 amplicon sequence variants, mainly from two fungal phyla, Ascomycota and Basidiomycota. The mean relative abundance of Candida albicans in the tonsil mycobiome was 11% (95% CI: 19 to 27%) in cases and 3.4 % (95% CI: -0.8% to 8%) in controls, p =0.104. Mycobiome data showed no statistical difference in differentiating between PFAPA cases and controls compared to a random chance classifier (area under the curve (AUC) = 0.47, SD = 0.05, p = 0.809). In conclusion, in this controlled study, tonsillar mycobiome in children with PFAPA syndrome did not differ from that of the controls.
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