Clinical and genetic aspects of the hereditary periodic fever syndromes
نویسندگان
چکیده
منابع مشابه
Hereditary periodic fever syndromes.
The hereditary periodic fevers are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Recent data indicate that these illnesses represent inborn errors in the regulation of innate immunity. Pyrin, the protein mutated in familial Mediterranean fever, defines an N-terminal domain found in a large family of proteins involved in inflammation and a...
متن کاملHereditary periodic fever syndromes
osting by E Abstract Hereditary periodic fever syndromes, comprise a group of hereditary disorders with similar clinical features of recurrent short episodes of fever associated with inflammatory manifestations. These are usually self-limited in nature and occur in the absence of infection or autoimmune reaction. Between attacks, patients feel well and regain their normal daily functions until ...
متن کاملClinical Genetic Testing of Periodic Fever Syndromes
Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of period...
متن کاملAutoinflammatory diseases: the hereditary periodic fever syndromes.
Human autoinflammatory diseases (HAIDs) are a heterogeneous group of genetically determined affections characterized by seemingly unprovoked inflammation, in the absence of autoimmune or infective causes. The hereditary periodic fever syndromes (HPFSs) are a HAID subset consisting of three main nosologic entities: familial Mediterranean fever (FMF), hyperimmunoglobulinemia D and periodic fever ...
متن کاملPathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes.
Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial perio...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2004
ISSN: 1460-2172
DOI: 10.1093/rheumatology/keh157