The fresco of autoinflammatory diseases from the pediatric perspective

Abstract

Autoinflammatory diseases are genetic or acquired clinical entities globally caused by the aberrant release of the proinflammatory cytokine interleukin-1 and mostly characterized by recurrent spontaneous inflammatory events which do not produce antigen-specific T cells or autoantibodies. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes, complement dysregulation syndromes and Behçet's disease. Most of these conditions interact with the inflammasomes, intracellular molecular complexes coordinating the phylogenetically ancient response of the innate immune system. The pathogenetic mechanisms of these diseases have shown the evidence of disrupted interleukin-1 signaling for most of them and allowed to locate interleukin-1 as an attractive therapeutic target. The whole fresco of autoinflammatory diseases in pediatrics will be discussed in this review with the aim of establishing both diagnostic clues and treatments for each condition.