title: Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA.
abstract: Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made.
authors.affiliation: a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Yamagami
authors.affiliation: a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Nakamura
authors.affiliation: a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Nakamura
authors.affiliation: a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Hanioka
authors.affiliation: a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Seki
authors.affiliation: b Department of General Medicine , Hachinohe City Hospital , Hachinohe , Japan , and.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Chiba
authors.affiliation: c Department of Infection and Host Defense, Graduate School of Medicine , Shinshu University , Matsumoto , Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: c Department of Infection and Host Defense, Graduate School of Medicine , Shinshu University , Matsumoto , Japan.
authors.forename: Kazunaga
authors.initials: K
authors.lastname: Agematsu
mesh_terms: D000328:Adult; D005091:Exons; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D000071198:Pyrin / Q000235:genetics*; D013577:Syndrome
chemical_list: D000071198:Pyrin
keywords: Familial Mediterranean fever; PFAPA; exon 3 variant