Autoinflammatory diseases (AIDs) are a group of distinct hereditable disorders characterized by unexplained, recurrent episodes of fever and severe inflammation, most commonly involving skin, joints, gut, and eyes. Mutations in inflammasome-related proteins, particularly in NOD-like receptor (NLR) genes, have been strongly associated to the occurrence of AIDs. However, new genes and dysfunctional proteins have recently been identified and the spectrum of AIDs is ever-expanding. In fact, it has been suggested to encompass among AIDs other disorders which share some clinical features, but are not clearly familial, or are not characterized by fever as a prominent symptom, or are polygenic. In this issue of Autoimmunity Reviews some novel and burning aspects of AIDs were covered and the relationship between AIDs and autoimmune diseases was discussed.
Autoinflammatory diseases: How to put the fire inside the body out?
DORIA, ANDREA;PUNZI, LEONARDO
2012
Abstract
Autoinflammatory diseases (AIDs) are a group of distinct hereditable disorders characterized by unexplained, recurrent episodes of fever and severe inflammation, most commonly involving skin, joints, gut, and eyes. Mutations in inflammasome-related proteins, particularly in NOD-like receptor (NLR) genes, have been strongly associated to the occurrence of AIDs. However, new genes and dysfunctional proteins have recently been identified and the spectrum of AIDs is ever-expanding. In fact, it has been suggested to encompass among AIDs other disorders which share some clinical features, but are not clearly familial, or are not characterized by fever as a prominent symptom, or are polygenic. In this issue of Autoimmunity Reviews some novel and burning aspects of AIDs were covered and the relationship between AIDs and autoimmune diseases was discussed.
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