title: A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited fever attacks and serositis/arthritis. The M694V, M694I, M680I, V726A, and E148Q mutations in MEFV, the gene responsible for FMF, account for most FMF cases in Mediterranean populations. In Japan, M694I and E148Q are most frequently detected; M694V, M680I, and V726A have not been identified so far. We report the first case of FMF associated with M680I in Japan.
authors.affiliation: Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan. oshima-k@umin.ac.jp
authors.forename: Koichi
authors.initials: K
authors.lastname: Oshima
authors.forename: Kazuko
authors.initials: K
authors.lastname: Yamazaki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Nakajima
authors.forename: Akari
authors.initials: A
authors.lastname: Kobayashi
authors.forename: Tomochika
authors.initials: T
authors.lastname: Kato
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Kazunaga
authors.initials: K
authors.lastname: Agematsu
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002648:Child; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin
chemical_list: D000893:Anti-Inflammatory Agents; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine