نتایج جستجو برای: hereditary periodic fever syndromes
تعداد نتایج: 337589 فیلتر نتایج به سال:
Introduction Cryopyrin-associated periodic syndromes (CAPS) are the rare hereditary autoinflammatory diseases. CAPS include three similar conditions are distinguished which lie along a phenotypical continuum with increasing levels of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA/ NOMID. Distinguishing features include cutaneous, neurological, op...
Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestati...
Autosomal dominant periodic fever syndromes are characterized by unexplained episodes of fever and severe localized inflammation. In seven affected families, we found six different missense mutations of the 55 kDa tumor necrosis factor receptor (TNFR1), five of which disrupt conserved extracellular disulfide bonds. Soluble plasma TNFR1 levels in patients were approximately half normal. Leukocyt...
Familial mediterranean fever (FMF) and Cryopyrin associated periodic syndromes (CAPS) are two prototypical hereditary autoinflammatory diseases, characterized by recurrent episodes of fever and inflammation as a result of mutations in MEFV and NLRP3 genes encoding Pyrin and Cryopyrin proteins, respectively. Pyrin and Cryopyrin play key roles in the multiprotein inflammasome complex assembly, wh...
Methods The study group consisted of 339 FMF patients diagnosed according to Tel Hashomer criteria. A control group of 377 patients were diagnosed other periodic fever syndromes including MKD, TRAPS, CAPS and PFAPA syndromes. Both groups were evaluated according to the Tel Hashomer criteria and the new set of diagnostic criteria proposed to use in childhood FMF. The diagnostic performance of bo...
OBJECTIVES The aims of this study were to describe the clinical features of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) and identify distinct phenotypes in a large cohort of patients from different countries. METHODS We established a web-based multicentre cohort through an international collaboration within the periodic fevers working party of the Pediatric ...
Introduction Cryopyrin-associated periodic syndrome (CAPS), familial mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndromes (TRAPS) are rare systemic, monogenetic inherited autoinflammatory diseases. The clinical significance of low penetrance mutations in TRAPS and CAPS as well as heterozygosity in FMF is still under debate. The frequency and clinical patter...
The term auto-inflammatory disorders has been coined to describe a group of conditions characterized by spontaneously relapsing and remitting bouts of systemic inflammation without apparent involvement of antigen-specific T cells or significant production of auto-antibodies. The hereditary periodic fever syndromes are considered as the prototypic auto-inflammatory diseases, and genetic studies ...
Objectives The identification of genes involved in the modulation of inflammatory processes has allowed the delineation of a new group of diseases called “Monogenetic Autoinflammatory Syndromes MAISs”. At the moment, 25 syndromes and their gene-disorders are known. Some of them are well known (eg Familial Mediterranean Fever), most of them are rare diseases (eg FCAS-Familial Cold-Autoinflammato...
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