title: Symptoms related to tumor necrosis factor receptor 1-associated periodic syndrome, multiple sclerosis, and severe rheumatoid arthritis in patients carrying the TNF receptor superfamily 1A D12E/p.Asp41Glu mutation.
abstract: OBJECTIVE
  Tumor necrosis factor (TNF) receptor 1-associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. The D12E substitution has been described only once to date, in a 4-year-old boy with fever.
  
  
  METHODS
  For DNA sequence analysis of the TNFRSF1A gene, genomic DNA was isolated, amplified by PCR, purified, and sequenced.
  
  
  RESULTS
  We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis.
  
  
  CONCLUSIONS
  The clinical phenotype might be associated with the TNFRSF1A D12E mutation. There is a close pathophysiological relationship between TNF signaling and autoimmune disorders.
authors: Institute of Clinical Neuroimmunology and the Department of Clinical Chemistry, Ludwig-Maximilians University, Munich, Germany.
authors: Joachim
authors: J
authors: Havla
authors: Peter
authors: P
authors: Lohse
authors: Lisa Ann
authors: LA
authors: Gerdes
authors: Reinhard
authors: R
authors: Hohlfeld
authors: Tania
authors: T
authors: Kümpfel
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D002648:Child; D002734:Chlorophyll / Q000031:analogs & derivatives; D005260:Female; D005334:Fever; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; D002734:Chlorophyll; C032623:pheophorbide a