title: A novel tumour necrosis factor receptor mutation in a Finnish family with periodic fever syndrome.
abstract: OBJECTIVE
  To report a novel mutation of the TNF receptor type 1 gene (TNFRSF1A) in a Finnish patient and her mother, both suffering from periodic fever.
  
  
  METHODS
  Soluble TNFRSF1A in serum was measured by enzyme-linked immunoabsorbancy, and induced TNFRSF1A shedding from monocyte cell surfaces was determined using fluorescence-activated cell sorter. Mutation detection was performed using PCR amplification and sequencing of the ten exons of TNFRSF1A.
  
  
  RESULTS
  Low levels of soluble TNFRSF1A were detected in both patients between attacks. Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS). We were unable to demonstrate a distinct TNFRSF1A shedding defect.
  
  
  CONCLUSIONS
  In patients of Nordic descent, affected by dominantly inherited recurrent fever, TRAPS is a diagnosis worthy of attention. All TNFRSF1A mutations hitherto described in the Nordic countries have been different.
authors.affiliation: Department of Dermatology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Stjernberg-Salmela
authors.forename: T
authors.initials: T
authors.lastname: Pettersson
authors.forename: L
authors.initials: L
authors.lastname: Karenko
authors.forename: V
authors.initials: V
authors.lastname: Blazevic
authors.forename: H
authors.initials: H
authors.lastname: Nevala
authors.forename: S
authors.initials: S
authors.lastname: Pitkänen
authors.forename: P
authors.initials: P
authors.lastname: Peterson
authors.forename: A
authors.initials: A
authors.lastname: Ranki
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005334:Fever / Q000235:genetics* / Q000276:immunology*; D005387:Finland; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010507:Periodicity; D016133:Polymerase Chain Reaction; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D013577:Syndrome
chemical_list: D018124:Receptors, Tumor Necrosis Factor