MEFV and NLRP3 gene variants in children with pfapa syndrome in slovenia
نویسندگان
چکیده
Introduction PFAPA syndrome is the most common autoinflammatory fever disorder in childhood, characterized by recurrent fever, aphthous stomatitis, pharyngitis and adenitis. Mutations in the MEFV and NLRP3 genes are known to cause syndromes with PFAPA overlapping symptoms (Familial Mediterranean Fever and Cryopyrin-Associated Periodic Syndrome), which are rarely reported in patients from Slovenia.
منابع مشابه
Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients
PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the Uni...
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