A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features
نویسندگان
چکیده
Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PSTPIP1, a protein involved in the rare autosomal dominant pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
منابع مشابه
MEFV 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 کاملGenotype Pattern of Pediatric Familial Mediterranean Fever in Jordan: A Single Center Experience
Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...
متن کاملPW01-032 – FMF-like state: genetic factors unrelated to MEFV
Introduction 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 symptomati...
متن کاملMEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Ardabil Province
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...
متن کاملIdentification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.
BACKGROUND Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (...
متن کامل