Work

PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Year: 2013

Type: article

Abstract: FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomatic cases. Thus, one cannot exclude the influence of other modifier genes and/or environmental factors which can contribute to the variable penetrance and to the phenotypic variability of FMF-like disease.

Source: Pediatric Rheumatology

DOI: 10.1186/1546-0096-11-s1-a85

Authors: D Babikyan, I Jeru, B Copin, H Hayrapetyan, S Amselem, T Sarkisian

Institutions: Center of Medical Genetics and Primary Health Care, Hôpital Armand-Trousseau

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090