++
++
This chapter focuses on the clinical and immunologic description of the currently known monogenic autoinflammatory syndromes. Most of these syndromes present with predominantly neutrophilic skin eruptions and either fever or systemic inflammation, with elevation of acute-phase reactants during the attacks. Disease-specific organ inflammation often involves the skin, serosal surfaces, the eyes, the inner ear the meninges, the bones, the gastrointestinal tract, lymphadenopathy and more rarely, the vasculature. The characteristic clinical pattern of organ-specific inflammation in the various syndromes can, in most cases, be used to make a clinical diagnosis, which is then confirmed by genetic testing. The syndromes are summarized in this chapter.
++
Autoinflammatory diseases are clinical disorders marked by episodic flares of abnormally increased systemic and organ-specific inflammation, mediated predominantly by the cells and molecules of the innate immune system, with a significant host predisposition.1 Historically, the term autoinflammatory diseases was first applied to two periodic fever syndromes that are caused by two single gene mutations encoding molecules involved in innate immune pathways. Both disorders lack the ...