title: Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.
abstract: We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.
authors.affiliation: Department of Medicine, Division of Rheumatology, Gulhane Military School of Medicine, Ankara, Turkey.
authors.forename: Ayhan
authors.initials: A
authors.lastname: Dinc
authors.forename: Hakan
authors.initials: H
authors.lastname: Erdem
authors.forename: Dorota
authors.initials: D
authors.lastname: Rowczenio
authors.forename: Ismail
authors.initials: I
authors.lastname: Simsek
authors.forename: Salih
authors.initials: S
authors.lastname: Pay
authors.forename: Muhterem
authors.initials: M
authors.lastname: Bahce
authors.forename: Helen
authors.initials: H
authors.lastname: Lachmann
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D014421:Turkey
chemical_list: D018124:Receptors, Tumor Necrosis Factor