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Journal Article
Review
What's new in autoinflammation?
Pediatric Nephrology 2018 December 15
The pathogenesis of autoinflammatory diseases has shed light on the concept of inflammation in general and on our understanding of the role of the innate immune system. The autoinflammatory diseases have a large spectrum with varying features of inflammation. The most common autoinflammatory diseases are those associated with periodic fevers. The delay in diagnosis of these four common diseases (familial Mediterranean fever, cryopyrin-associated periodic fever syndrome, mevalonate kinase deficiency, and TNF receptor-associated periodic fever syndrome) results in secondary amyloidosis of the kidney. The new work towards classification criteria for these diseases is presented. Recently a group of autoinflammatory diseases that are associated with vasculitis have also been identified. These are stimulators of interferon genes (STING)-associated vasculopathy of infancy (SAVI), which is a monogenic defect associated with excessive activity in interferon alpha and deficiency of adenosine deaminase 2, which is characterized by a polyarteritis nodosa-like picture. These monogenic diseases are now in our differential diagnosis of vasculitides. Secondary amyloidosis is a complication of autoinflammatory diseases. Understanding the inflammatory mechanisms in these diseases has led to the use of targeted biologics for this complication. It is hoped that enlightening the mechanisms underlying these monogenic autoinflammatory diseases will also teach us about the pathways in common diseases.
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