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D’Osualdo, A., Picco, P., Caroli, F., Gattorno, M., Giacchino, R., Fortini, P., Corona, F., Tommasini, A., Salvi, G., Specchia, F., Obici, L., Meini, A., Ricci, A., Seri, M., Ravazzolo, R., Martini, A. and Ceccherini, I. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. European Journal of Human Genetics, 13, 314-320. http://dx.doi.org/10.1038/sj.ejhg.5201323
has been cited by the following article:
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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.
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