Case Reports in Pediatrics, 2021 Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality.
Tomonobu Sato +10 more
doaj +1 more source
Familial Mediterranean fever : MEFV gene mutations and treatment
Japanese Journal of Clinical Immunology, 2007 Familial Mediterranean fever (FMF) is an autosomal recessive disease which predominantly affects certain ethnic groups mainly Sephardic Jews, Turks, Arabs and Armenians. FMF has been rarely reported in Japan. Characteristic symptoms include self-limited recurrent attacks of fever with serositis such as peritonitis, pleuritis, and arthritis.
Megumu, Saito +2 more
openaire +3 more sources
Frequencies of the Common Mefv Gene Mutations in Adiyaman, Southeast Anatolia, Turkey
Balkan Journal of Medical Genetics, 2014 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and
Korkmaz D. T., Atak P. G., Çelik Ç.
doaj +1 more source
Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]
, 2008 Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky +7 more
core +1 more source
P01-022 – MEFV gene mutations registered to infevers [PDF]
Pediatric Rheumatology, 2013 Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.
Berdeli, A +4 more
openaire +1 more source
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. [PDF]
PLoS Genetics, 2019 Ankylosing spondylitis (AS) is a highly heritable immune-mediated arthritis common in Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease most common in people of Mediterranean origin ...
Zhixiu Li +29 more
doaj +1 more source
Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi, 2021 ObjectiveWe aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF).
Şebnem Özemri Sağ +4 more
doaj +1 more source
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
core +3 more sources
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
core +5 more sources
Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo?
Revista Brasileira de Reumatologia, 2015 RESUMOObjetivoA artrite gostosa e a febre familiar do Mediterrâneo (FFM) compartilham algumas características clínicas e patológicas, como ser classificada como uma doença autoimune inflamatória, ter associação com o inflamassoma, manifestar artrite ...
Ismail Sari +8 more
doaj +1 more source