A practical approach to the diagnosis of autoinflammatory diseases in childhood

Abstract

Autoinflammatory diseases are characterized by the presence of chronic or recurrent systemic inflammation secondary to abnormal activation of innate immunity pathways. Many of these diseases have been found to have mutations in the genes within these pathways. Due to their rarity, non-specific symptoms and the very recent genetic and phenotypic identification and recognition, a delay in diagnosis is common. Nevertheless, some specific clinical features should help the clinician to make the diagnosis. The purpose of this article is to provide a brief clinical description of these conditions and to present clinical flow-charts useful for a correct diagnosis of children with suspected autoinflammatory syndromes.

Keywords: Autoinflammatory diseases; Cryopyrin-associated periodic syndromes; Familiar Mediterranean fever; PFAPA syndrome; Periodic fever.