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DEFINITIONS AND EPIDEMIOLOGY

Autoinflammatory syndromes are defined by the presence of recurrent incapacitating episodes or fluctuating degrees of fever and inflammation in the absence of infection. Pivotal to this group of syndromes is the fact that they can be inherited as a monogenic trait or appear as a polygenic trait. While autoimmune diseases are caused by dysregulation of the acquired immune system, the autoinflammatory diseases result from inappropriate activation of the innate immunity, with absence of significant levels of autoantibodies and autoreactive T cells.1,2 However, in recent years it has become clear that immunological inflammatory diseases should be regarded as a continuum, with purely monogenic autoinflammatory diseases at one end of the spectrum and purely monogenic autoimmune diseases at the other end (Table 65-1). Since 1997, 12 of the major syndromes have been linked to mutations in nine genes, facilitating the specific diagnosis of these conditions rather than relegating them to diagnoses of exclusion3 (Table 65-2). The nomenclature of the various autoinflammatory syndromes is complicated, comprising a mix of syndromes described by various typical manifestations and syndromes characterized by identification of specific genetic defects. Most terms predate the discovery of implicated genetic defects. To confuse matters even more, most autoinflammatory syndromes are known by more than one name, reflecting both personal and local preferences. For the purposes of this chapter, we use the most accepted terms from the literature.

TABLE 65-1Immunological Disease Continuum*

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