SAT0527 COMBINED EFFECT OF COMMON VARIANTS IN EXON 2 OR EXON 3 AND A PATHOGENIC MUTATION IN EXON 10 OF THE MEDITERRANEAN FEVER GENE ON INFLAMMASOME ACTIVATION IN JAPANESE PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER
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چکیده
منابع مشابه
AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations
A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/...
متن کاملMEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
متن کاملAssessment of MEFV Gene Mutations in Exon 10 in Familial Mediterranean Fever Patients from Iranian Azeri and Turkish Population
Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an auto-somal recessive disease, predominantly affecting people of Mediterranean descent, although recently it has been described in many other populations (1-3). Linkage between the gene responsible for FMF (MEFV) and the short arm of chromosome 16 was first shown in 1992. Mediterranean Fever (MEFV) gene ...
متن کاملMutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province
Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sect...
متن کاملGenetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever
Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 2020
ISSN: 0003-4967,1468-2060
DOI: 10.1136/annrheumdis-2020-eular.5475