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E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?
Eur J Pediatr
October 2024
Department of Pediatrics, Lady Davis Carmel Medical Center, Haifa, Israel.
Unlabelled: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease, linked to mutations in the MEFV gene. The p.E148Q variant, found on exon 2, has an uncertain role in FMF, with debates on whether it is a benign polymorphism or a pathogenic mutation.
View Article and Find Full Text PDFBlood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Ann Rheum Dis
July 2020
VIB Center for Inflammation Research, Zwijnaarde, Belgium
Background And Objective: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association for most of the 340 reported variants.
View Article and Find Full Text PDFDiffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study.
Diagn Pathol
July 2015
Department of Pathology (Organ Pathology Unit), 89-1 Enya, Izumo, Shimane, 693-8501, Japan.
Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses.
View Article and Find Full Text PDFIntrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.
Ann Rheum Dis
September 2006
Service de Biochimie and Fédération de Génétique, Centre Hospitalier Victor-Dupoy, France.
Background: Familial Mediterranean fever (FMF) is the most frequent of the recurrent inherited fevers. This autosomal recessive disorder is characterised by periodic episodes of fever and serositis that commonly affect the people of Arab, Armenian, Sephardic Jewish and Turkish origin. Most of the described MEFV gene anomalies responsible for the disease are missense mutations.
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