Autoinflammatory diseases: an update of clinical and genetic aspects

作者：Yao Q; Furst D E^*

来源：Rheumatology, 2008, 47(7): 946-951.

DOI：10.1093/rheumatology/ken118

• autoinflammatory disease
• familial Mediterranean fever
• tumour necrosis factor a receptor associated periodic fever syndrome
• hyperimmunoglobulinemia D periodic fever syndrome
• cryopyrin
• genetic analysis
• amyloidosis
• therapy
• TNF alpha blocker
• interleukin-1 receptor antagonist

To review clinical manifestations and genetic features of the autoinflammatory diseases, a group of rare, genetically defined diseases which have been newly grouped into a coherent whole. We performed a literature review using the keywords periodic fever syndrome, autoinflammatory disease and therapy. All relevant original and review articles in English were reviewed. A case report of each autoinflammatory disease was excerpted from the literature and presented. This review summarizes the clinical manifestations, genetic analysis and therapy of FMF, TNF-alpha receptor-associated periodic fever syndrome, hyperimmunoglobulinaemia D periodic fever syndrome and cryopyrin-associated periodic fever syndrome. These diseases have periodic fever, are hereditary and recurrent, with elevated acute-phase reactants. Differentiating features of these disorders are tabulated. Autoinflammatory diseases have some communalities in their presentation although they represent a relatively diverse group of genetically associated diseases.

• 出版日期2008-7