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Archivos argentinos de pediatría
versión impresa ISSN 0325-0075
Resumen
MEIORIN, Silvia M; ESPADA, Graciela y ROSE, Carlos. Autoinflammatory diseases in pediatrics. Arch. argent. pediatr. [online]. 2013, vol.111, n.3, pp.237-243. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2013.237.
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical manifestations, such as skin rash, serositis or arthritis) associated with elevation of acute phase reactants. During symptom-free intervals, patients achieve clinical well-being and normalize infammatory parameters. Amyloidosis is a serious long-term complication. In this update we will discuss the clinical presentation and therapeutic strategies for these diseases in pediatrics.
Palabras clave : Hereditary autoinflammatory diseases; Hereditary periodic fever syndromes; Inflammasome.