Abstract
BackgroundSystemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.ObjectiveWe aimed to characterize the clinical features of patients with SAID.MethodsThis study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.ResultsA total of 54 patients were evaluated: 18 with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome; 16 with Behçet disease; 13 with systemic juvenile idiopathic arthritis; 4 with syndrome of undifferentiated recurrent fever; 1 with cryopyrin associated periodic syndrome; 1 with chronic nonbacterial osteomyelitis; and 1 with Muckle-Wells syndrome.ConclusionThe analysis of clinical features of our patients are similar to other studies. Our goal was to aware the medical community to early recognize and treat SAID to improve quality of life of pediatric patients.
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