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A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome

J Trübenbach1, G Wildhardt, J Niebel

  • 1bio.logis, Center for Human Genetics Frankfurt, Altenhöferallee 3, 60438, Frankfurt am Main, Germany.

Rheumatology International
|June 24, 2009
PubMed

Insights

Hereditary periodic fever syndromes (HPFSs) can be precisely diagnosed using molecular genetic analysis. This ensures correct treatment for conditions like tumor necrosis factor receptor-associated periodic syndrome, distinct from familial Mediterranean fever.

Area of Science:

  • Genetics and Molecular Biology
  • Immunology
  • Rheumatology

Background:

  • Hereditary periodic fever syndromes (HPFSs) are autoinflammatory diseases featuring recurrent fever and inflammation.
  • Accurate diagnosis is crucial as different HPFSs require distinct therapeutic strategies.
  • Familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are distinct conditions within HPFSs.

Observation:

  • A family presented with a hereditary periodic fever syndrome phenotype.
  • The index patient was initially misdiagnosed with familial Mediterranean fever (FMF).
  • Genetic analysis revealed novel mutations in the TNFRSF1A gene, indicating TRAPS.

Findings:

  • Two monoallelic mutations in the TNFRSF1A gene were identified in affected family members.
  • Molecular genetic analysis confirmed the index patient had tumor necrosis factor receptor-associated periodic syndrome (TRAPS), not FMF.
  • The study identified a previously undescribed mutation type in the TNFRSF1A gene.

Implications:

  • Molecular genetic testing enables precise diagnosis of HPFSs, differentiating conditions like TRAPS from FMF.
  • Accurate diagnosis based on genetic analysis is fundamental for effective and targeted therapeutic interventions.
  • This study highlights the importance of genetic analysis in refining diagnoses and guiding treatment for autoinflammatory diseases.

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