Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

Mod Rheumatol. 2010 Jun;20(3):311-5. doi: 10.1007/s10165-010-0273-y. Epub 2010 Feb 19.

Abstract

We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloidosis / genetics
  • Amyloidosis / immunology
  • Female
  • Hereditary Autoinflammatory Diseases / genetics*
  • Hereditary Autoinflammatory Diseases / immunology
  • Humans
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / immunology
  • Mutation
  • Receptors, Tumor Necrosis Factor, Type I / genetics*
  • Receptors, Tumor Necrosis Factor, Type I / immunology

Substances

  • Receptors, Tumor Necrosis Factor, Type I