Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective [PDF]
Pediatric Rheumatology, 2015 Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty.
Ben-Zvi, I +5 more
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Pediatric Rheumatology Online Journal, 2020 Background Systemic juvenile idiopathic arthritis (sJIA) has many clinical features overlapping with familial Mediterranean fever (FMF), which is caused by mutations in MEFV gene. And FMF patients were easily misdiagnosed as sJIA in China.
Linqing Zhong +10 more
doaj +1 more source
P01-004 – MEFV genes and FMF [PDF]
Pediatric Rheumatology, 2013 Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen in the Turks, Arabs, Armenians and Jews people characterised by recurrent episoded of fever and polyserositis and rash. Recently the definitive diagnosis of FMF determines by MEFV gene analysis.
Salehzadeh, F +3 more
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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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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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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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MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease
Annals of Clinical and Translational Neurology, 2019 Mediterranean fever (MEFV) gene mutations are associated with familial Mediterranean fever (FMF). Recent studies have suggested that MEFV gene mutations may act as disease modifiers in neuro‐Behçet's (NBD) disease and neuro‐Sweet disease (NSD).
Hidehiro Ishikawa +14 more
doaj +1 more source
A HYPOTHETICAL ROLE FOR PLAGUE IN THE SELECTION OF MEFV MUTATION CARRIERS IN THE MEDITERRANEAN AREA
Central Asian Journal of Medical Hypotheses and Ethics, 2020 Familial Mediterranean fever (FMF) is the most common autoinflammatory disease associated with mutations in the MEFV gene encoding Pyrin. MEFV mutations are frequent in the Mediterranean region.
Ezgi Deniz Batu
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
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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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