Hyper-IgD syndrome and 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 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 کاملDefective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome.
Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V...
متن کاملHyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy wit...
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ژورنال
عنوان ژورنال: Reumatismo
سال: 2011
ISSN: 2240-2683,0048-7449
DOI: 10.4081/reumatismo.2004.147