Abstract
Human autoinflammatory diseases are a heterogeneous group of genetically determined diseases characterized by seemingly unprovoked inflammation, in the absence of autoimmune or infective causes. These diseases are caused by proteins that involve in the innate immunity and interact with other proteins to form an inflammasome (1), which acts as an early sensor to detect danger signals and initiates the host defense reactions (2). Members of the “NALP” family of proteins (which includes cryopyrin) are components of the inflammasome. Two types of inflammasomes have now been described: the NALP1 inflammasome and the NALP3, or cryopyrin, inflammasome. The stimulation of cryopyrin triggers a series of reactions, which ultimately result in the activation of the proinflammatory cytokine interleukin-13.
The past decade has witnessed tremendous advances in the understanding of these disorders. These advances have allowed for therapeutic interventions, resulting in improvement in the short-term and long-term morbidity of all of these diseases. As these syndromes often have overlapping symptoms, diagnostic criteria are essential.
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Padeh, S., Berkun, Y. (2008). Periodic Fever Syndromes. In: Shoenfeld, Y., Cervera, R., Gershwin, M.E. (eds) Diagnostic Criteria in Autoimmune Diseases. Humana Press. https://doi.org/10.1007/978-1-60327-285-8_39
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DOI: https://doi.org/10.1007/978-1-60327-285-8_39
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