title: A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.
abstract: We report a 2-year-old girl with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) who is the youngest proband diagnosed in Japan. Recurrent fever had started at her 6 months of age, and she had the familial history of recurrent fever, suggesting underlying genetic disorder, in her father and grandfather. Careful clinical observation of characteristics of fever with disease course and the familial history of recurrent fever may lead to diagnosis of TRAPS in early infancy.
authors.affiliation: a Department of Pediatrics , Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Yasumura
authors.affiliation: b Department of Pediatrics , Hiroshima City Asa Hospital , Hiroshima , Japan.
authors.forename: Masakuni
authors.initials: M
authors.lastname: Wago
authors.affiliation: a Department of Pediatrics , Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Okada
authors.affiliation: c Department of Pediatrics , Graduate School of Medicine, Kyoto University , Kyoto , Japan.
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.affiliation: d Department of Maternal and Pediatric Nursing , School of Health Sciences, Faculty of Medicine, Kagoshima University , Kagoshima , Japan.
authors.forename: Syuji
authors.initials: S
authors.lastname: Takei
authors.affiliation: a Department of Pediatrics , Hiroshima University Graduate School of Biomedical & Health Sciences , Hiroshima , Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: D002675:Child, Preschool; D005260:Female; D005334:Fever / Q000175:diagnosis* / Q000235:genetics; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007564:Japan; D009154:Mutation
keywords: Autoinflammatory diseases; Periodic fever; Systemic juvenile idiopathic arthritis; Tumor necrosis factor receptor-associated periodic syndrome