Study to Understand the Genetics and Immune Features of PFAPA Syndrome and Other Tonsil Disorders

What this Trial Is About

Researchers are studying periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis PFAPA syndrome and other tonsil disorders, which are common causes of periodic fever in children. The study aims to understand how PFAPA develops by collecting genetic, immunologic, cellular, molecular, and microbial data from affected individuals. This observational study seeks to identify risk factors and immune responses related to these conditions. Participants with PFAPA or other tonsil disorders will provide various specimens, including blood, saliva, mucus, stool, and cells from the nose or mouth. Tissue samples may also be collected if participants undergo tonsil or adenoid removal surgery. Specimens can be collected either in person at study sites or remotely through local health providers. Some participants may have optional follow-up visits over a period of up to 10 years. During the study, medical records will be reviewed and family history of PFAPA will be collected. Researchers will analyze genetic variations, immune cell populations, gene and protein expression, and microbiota in tissues and samples. Outcomes include understanding immune responses, molecular pathways, and clinical effects after tonsillectomy or other treatments. The study involves specimen collection, clinical evaluations, and long-term monitoring.

Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders