Chapter 10 Episodic Autoinflammatory Disorders in Children

Publisher Summary This chapter presents a clinical presentation and outlines the recent progress in elucidating the underlying pathophysiology for episodic autoinflammatory disorders in children. The autoinflammatory diseases are a newly recognized and expanding class of inflammatory disorders that share many features with autoimmune diseases. They differ significantly, in that autoinflammatory syndromes are characterized by an absence, not only of pathogens, but also of high titre autoantibodies and pathogenic auto reactive T cells. The intermittent autoinflammatory disorders, known as periodic fever syndromes, lead to recurrent episodes of fever alternating with more or less prolonged periods of disease remission. The fever episodes are usually accompanied by additional systemic and localized inflammatory symptoms involving joints, skin, eyes, or abdomen. To diagnose a patient presenting with periodic fever, a combination of clinical characteristics such as age of onset, length of attacks, precipitating factors, associated symptoms and family history are documented along with genetic screening of the appropriate genes.