Protocolo diagnóstico de las enfermedades autoinflamatorias

Abstract

Autoinflammatory diseases are characterized by recurrent episodes of inflammation that are mainly mediated by the innate immune system and due to genetic mutations. Its diagnosis is challenging due to its low prevalence and phenotypic heterogeneity, especially in adults. After ruling out other more frequent diseases as the cause of the inflammatory phenomena, a genetic study is key to confirming the suspicion.