Autoinflammatory diseases: an update of clinical and genetic aspects

• Published in: Rheumatology (Oxford, England) Vol. 47; no. 7; pp. 946 - 951
• Main Authors: Yao, Q., Furst, D. E.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.07.2008; Oxford Publishing Limited (England)
• Subjects: Adult; Amyloidosis; Autoinflammatory disease; Biological and medical sciences; Carrier Proteins - analysis; Cryopyrin; Diagnosis, Differential; Diseases of the osteoarticular system; Errors of metabolism; Familial Mediterranean fever; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - drug therapy; Familial Mediterranean Fever - genetics; Female; Genetic analysis; Genetic Predisposition to Disease; Humans; Hyperimmunoglobulinemia D periodic fever syndrome; Inflammatory joint diseases; Interleukin-1 receptor antagonist; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Metabolic diseases; Mevalonate Kinase Deficiency - diagnosis; Mevalonate Kinase Deficiency - drug therapy; Mevalonate Kinase Deficiency - genetics; Miscellaneous hereditary metabolic disorders; NLR Family, Pyrin Domain-Containing 3 Protein; Receptors, Tumor Necrosis Factor - genetics; Therapy; TNFα blocker; Tumour necrosis factor a receptor associated periodic fever syndrome; Therapy; Autoinflammatory disease; Hyperimmunoglobulinemia D periodic fever syndrome; Cryopyrin; TNFα blocker; Tumour necrosis factor a receptor associated periodic fever syndrome; Genetic analysis; Interleukin-1 receptor antagonist; Familial Mediterranean fever; Amyloidosis; Diseases of the osteoarticular system; Hyperimmunoglobulinemia D syndrome; Enzymopathy; Inflammatory disease; Interleukin 1; Hereditary periodic fever; Genetics; Antagonist; Tumor necrosis factor α; Cytokine; Rheumatology; Metabolic diseases; Protein; Genetic disease; Symptomatology; Treatment; Tumor necrosis factor; Familial mediterranean fever
• ISSN: 1462-0324; 1462-0332; 1462-0332
• DOI: 10.1093/rheumatology/ken118

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.