Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil.
Sérgio Júlio FernandesMaria Isabel Valdomir NadafNauro Hudson MonteiroIzabel Nazira NadafCleiton Ribeiro LélisBianca Yumi TakanoBárbarah Gabriella de Camargo MonteiroNyvea Gabriella de Camargo MonteiroOlga Akiko TakanoLeonardo Oliveira MendonçaPublished in: Case reports in immunology (2021)
This case illustrates that in children with recurrent/recalcitrant sterile recurrent pyogenic arthritis/osteomyelitis, the possibility of an underlying immunological condition should be considered. In both, recurrent infections or recurrent inflammation, many genes involved in the inborn errors of immunity can be associated, and a correct and precocious diagnosis is necessary to avoid mobility and mortality. To the best of our knowledge, this is the first report of PAPA syndrome in Brazil.