title: 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.
authors.affiliation: Division of Rheumatology, David Geffen Medical School at UCLA, Los Angeles, CA 90095, USA.
authors.forename: Q
authors.initials: Q
authors.lastname: Yao
authors.forename: D E
authors.initials: DE
authors.lastname: Furst
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000032:analysis; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D018124:Receptors, Tumor Necrosis Factor