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Autoinflammatory syndromes, formerly known as periodic fever syndromes, are defined as recurrent attacks of often unprovoked systemic inflammation that are related to a lack of adequate regulation of the innate immune system. Unlike autoimmune diseases, these conditions are not generally marked by autoantibodies or autoreactive T cells. Many of these syndromes have a genetic etiology (Table 206-1). The pathogenesis of a large proportion of the major syndromes involves the excessive production and activity of interleukin (IL)-1β (Fig. 206-1). However, other immune mechanisms are also implicated in the pathogenesis of these diseases. The conditions are no longer known as periodic fever syndromes because most are not truly periodic and fever is not a necessary feature.

Figure 206-1

Schema of selected innate immune inflammatory pathways related to the autoinflammatory syndromes. The schema demonstrates the effect of external stimuli on the development of inflammation and the relationship of several regulatory proteins (pyrin, NLRP3, NLRP12, PSTPIP1) that when mutated result in the development of autoinflammatory diseases. DAMP, damage-associated molecular patterns; IL, interleukin; NLR, nod-like receptors; NLRPs, NLRs with pyrin domain–containing proteins; PAMP, pathogen-associated molecular patterns; PSTPIP, proline-serine-threonine phosphatase-interacting protein; TLR, toll-like receptors.

As understanding of the pathogenesis of autoinflammatory syndromes increases, so does the spectrum of conditions that may be included within this category. The field of autoinflammatory disorders is probably the most rapidly changing discipline in pediatric rheumatology, and since the last edition was published, numerous new monogenic and other diseases have been added to the list. Thus, inflammatory diseases including systemic juvenile idiopathic arthritis, ...

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