Autoinflammatory Diseases: An Update of Clinical and Genetic Aspects

Q. Yao; D. E. Furst


Rheumatology. 2008;47(7):946-951. 

In This Article

Abstract and Introduction

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-α 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.

Autoinflammatory diseases (AIDs), also called periodic fever syndrome, refer to a group of rare hereditary recurrent unprovoked inflammation without high titres of autoantibodies or antigen-specific T lymphocyte in the absence of infection.[1] These diseases primarily include FMF, TNF receptor-associated periodic fever syndrome (TRAPS), hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), and the cryopyrin-associated periodic syndrome (CAPS) including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and neonatal onset multi-system inflammatory disease (NOMID)/chronic infantile neurological cutaneous and articular syndrome (CINCA).

A case of each AID will be presented and followed by a review focusing on the clinical manifestations, genetic analysis, pathogenesis, complication and therapy of these diseases.


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