Autoinflammatory diseases: an update of clinical and genetic aspects

Abstract

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.