Patient with FMF and Triple MEFV Gene Mutations [PDF]
Medical Archives, 2015 Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks,
Salehzadeh, Farhad, Fathi, Afshin
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Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis [PDF]
, 2010 We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease.
Blaschek, Astrid +7 more
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The role of MEFV gene in COVID 19 disease, as a protective factor [PDF]
Balkan Journal of Medical Genetics, 2020 Abstract Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS.
Salehzadeh F +5 more
europepmc +6 more sources
The AIM2 inflammasome is critical for innate immunity to Francisella tularensis. [PDF]
, 2010 Francisella tularensis, the causative agent of tularemia, infects host macrophages, which triggers production of the proinflammatory cytokines interleukin 1beta (IL-1beta) and IL-18. We elucidate here how host macrophages recognize F.
Alnemri, Emad S +12 more
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MEFVgene is a probable susceptibility gene for Behçet's disease
Scandinavian Journal of Rheumatology, 2005 Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population
Imirzalioglu, N. +4 more
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Reimann's "Habitual Hyperthermia" Responding to Hormone Therapy. [PDF]
, 2016 A 25-year-old woman presented with fever of unknown origin, exhibiting malaise and low-grade fevers in evenings. These fevers exhibited a pattern of starting mid-menstrual cycle with resolution around the onset of menses, matching a pattern of "habitual ...
Currier, Judith S, Yang, Otto O
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Prevalence of polymorphisms of the genes responsible for auto-inflammatory diseases among 202 patients with recurrent fever in a rheumatology institute in Japan [PDF]
, 2014 Pediatric Rheumatology Congress 2014 2014年09月20日 ...
KAWAGUCHI Yasushi +4 more
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A Case of Henoch-Schonlein Purpura Associated with Rotavirus Infection in an Elderly Asian Male and Review of the Literature. [PDF]
, 2017 BACKGROUND Henoch-Schönlein purpura (HSP), a small vessel vasculitis mediated by deposition of immune-complexes containing IgA in the skin, gut, and glomeruli, often presents with abdominal pain, purpuric rash in the lower extremities and buttocks, joint
Adderley +13 more
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Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease [PDF]
, 2017 BackgroundHLA-DRB1 alleles are major determinants of genetic predisposition to rheumatic diseases. We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still’s disease (AOSD) in a Japanese ...
Asano Tomoyuki +29 more
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Decreased MEFV gene expression in rheumatoid arthritis patients
Genetics and Molecular Research, 2015 Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely ...
E O, Etem +6 more
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