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Related Experiment Videos

TNFRSF1A mutations and autoinflammatory syndromes.

J Galon1, I Aksentijevich, M F McDermott

  • 1Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820, USA.

Current Opinion in Immunology
|July 19, 2000
PubMed
Summary

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by mutations in the TNFRSF1A gene. Impaired receptor shedding may drive inflammation, with promising preliminary results for a novel fusion protein therapy.

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Area of Science:

  • Genetics and immunology
  • Molecular biology
  • Systemic inflammatory disorders

Background:

  • Autoinflammatory syndromes are systemic disorders characterized by unprovoked inflammation without autoantibodies or T-cell responses.
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a notable autoinflammatory condition featuring recurrent fever and localized inflammation.
  • TRAPS is linked to inherited mutations in the TNFRSF1A gene, which encodes the 55 kDa TNF receptor.

Purpose of the Study:

  • To investigate the genetic basis and pathogenic mechanisms of TRAPS.
  • To explore the role of TNFRSF1A mutations in receptor shedding and inflammation.
  • To evaluate preliminary therapeutic potential of a recombinant fusion protein.

Main Methods:

  • Genetic analysis of patients with TRAPS to identify mutations in TNFRSF1A.

Related Experiment Videos

  • Molecular studies to assess the impact of mutations on TNF receptor ectodomain cleavage and shedding.
  • Clinical assessment and preliminary treatment evaluation of recombinant p75 TNFR-Fc fusion protein.

    • Main Results:

    • TRAPS is caused by dominant mutations in TNFRSF1A, primarily affecting the receptor's extracellular subdomains.
    • Mutations disrupt disulfide bonds, potentially impairing ectodomain shedding and reducing soluble receptor levels.
    • Preliminary data suggests favorable outcomes with recombinant p75 TNFR-Fc fusion protein treatment in TRAPS patients.

    Conclusions:

    • Mutations in TNFRSF1A are the cause of TRAPS, impacting TNF receptor function.
    • Impaired shedding of the TNFRSF1A ectodomain is a likely mechanism contributing to TRAPS pathogenesis.
    • Recombinant p75 TNFR-Fc fusion protein shows promise as a therapeutic agent for TRAPS.