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Leslie, K.S., Lachmann, H.J., Bruning, E., McGrath, J.A., Bybee, A., Gallimore, J.R., Roberts, P.F., Woo, P., Grattan, C.E. and Hawkins, P.N. (2006) Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Archives of Dermatology, 142, 1591-1517. http://dx.doi.org/10.1001/archderm.142.12.1591

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• TITLE: Autoinflammatory diseases in childhood

  AUTHORS: Betul Sozeri, Ozgur Kasapcopur

  KEYWORDS: Autoinflammatory Diseases; Familial Mediterranean Fever; Diagnosis; Pathogenesis; Treatment

  JOURNAL NAME: Modern Research in Inflammation, Vol.3 No.1, February 11, 2014

  ABSTRACT: Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes (systemic-onset juvenile idiopathic arthritis, PFAPA syndrome), complement dysregulation syndromes and Behcet’s disease. The hereditary autoinflammatory diseases are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Autoinflammatory diseases can activate NOD-like receptors and inflammasome products including especially interleukin 1β. In this review, it focuses on how recent advances have impacted hereditary autoinflammatory diseases.