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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Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study. [PDF]
Glob Pediatr HealthFamilial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the MEVF gene cause it. AA Amyloidosis is the most severe complication of FMF leading to chronic renal failure. We describe a rare pediatric case of a phenotype I familial Mediterranean fever with V726A heterozygous ...
El Gazzane S +8 more
europepmc +4 more sources
MEFV mutations - therapeutic guides or red herrings? [PDF]
Pediatric Rheumatology, 2015 Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is
Warrier, K +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
core +1 more source
Prediction of More Severe MEFV Gene Mutations in Childhood
Turkish Archives of Pediatrics, 2021 This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings.We enrolled cases diagnosed with FMF with a defined variation in at least one allele.
Güneş-Yılmaz, Seviye +7 more
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Journal of Contemporary Medicine, 2022 Background: Familial Mediterranean Fever (FMF) is an autoinflammatory disease and may express as various clinical findings. Chemokines are crucial elements of the inflammatory process.
Nadir Koçak, Şenol Çitli
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
A Negative Correlation Between MEFV Mutations and Allergic Diseases
Journal of Pediatric Research, 2022 Aim:Atopy is associated with a genetic predisposition to develop allergic diseases such as allergic rhinitis, asthma, and atopic dermatitis. In this study, we aimed to compare the prevalence of Familial Mediterranean Fever (FMF) mutations in asthma and ...
Malik Ejder Yıldırım +3 more
doaj +1 more source
Indian Journal of Rheumatology, 2023 Introduction: Reactive arthritis (ReA) is a postinfectious, nonseptic arthritis that is characterized by an acute lower limb predominant oligoarthritis.
Anamika Kumari Anuja +5 more
doaj +1 more source
PW01-003 – Frequency of MEFV mutations in Turkish population [PDF]
Pediatric Rheumatology, 2013 Our results showed that 62 of 388 participants (16.0%) (95% CI:12.5-20.0) were carriers of MEFV mutations. Seven individuals were compound heterozygous, two homozygous and 53 were heterozygous for the mutations. Mutation frequency was 9.2% (95% CI: 7.22-11.4). The most common mutations in the Turkish general population were p.E148Q, p.M694V and p.P369S
Yalcinkaya, F +6 more
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