Autoinflammatory Syndromes

Abstract

There has been an expansion of the autoinflammatory syndromes due to the discovery of new diseases related to mutations in genes regulating the innate immune system and the knowledge gained from these diseases as applied to more common nongenetic inflammatory conditions. Autoinflammatory syndromes are characterized by unprovoked (or triggered by minor events) recurrent episodes of systemic inflammation involving various body systems, which are often accompanied by fever. Inflammation is mediated by polymorphonuclear and macrophage cells through cytokines, particularly interleukin-1. This article reviews the clinical approach to patients with suspected autoinflammatory syndromes, several of the main and new (mostly genetics) syndromes, advances in treatment, and prognosis.

Cryopyrin‐associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics

“…These three conditions represent a continuum of disease, with FCAS being the mildest and NOMID being the most severe . All three disorders are associated with mutations of the NLRP3 gene on chromosome 1q44 (also known as CIAS1 ), which occur de novo or are dominantly inherited with variable penetrance .…”

New frontiers in the treatment of systemic juvenile idiopathic arthritis

“…Whereas other subtypes of JIA have features of classic autoimmune diseases, sJIA may be better described as sharing features of both autoinflammatory and autoimmune diseases 1, 15– 17 . Autoinflammatory diseases are mediated by cells of the innate immune system and inflammatory cytokines, such as interleukin (IL)-1 and IL-6, in contrast to the classical autoimmune diseases, which are mediated by cells of the adaptive immune system and are frequently found to be associated with specific HLA alleles 15, 18 . Several studies suggest a role for natural killer (NK) cells, part of the innate immune system, in sJIA, particularly during MAS 19– 24 .…”

From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases

“…Autoinflammatory diseases (AIDs) were so named in 1999 to characterize a group of hereditable monogenic conditions, defined by recurrent episodes of systemic and organ-specific sterile inflammation caused by mutations in proteins involved in the innate immune response [1]: these include cytokine receptors, receptor antagonists, and components of the inflammasome, that is, a set of intracellular protein complexes that enable the autocatalytic activation of inflammatory caspases, driving the release of interleukin-1 (IL-1)/IL-1 family members into the blood stream [2]. By specifically blocking IL-1, we have learned a great deal about the role of this cytokine in inflammation and the central role of caspase activation in the pathogenesis of various AIDs, which have been recognized across different countries spanning from the Mediterranean sea to East Asia [3].…”