The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, Frenkel J, Anton J, Kone-Paut I, Cattalini M, Bader-Meunier B, Insalaco A, et al.

Ann Rheum Dis · 2014

Grade Bcohortn=158

Key Findings

  • Largest case series at time of publication (158 validated patients)
  • R92Q most common variant (34%), T50M (10%), cysteine disruption in 27%
  • Median onset age 4.3 years; median 70 symptomatic days/year
  • Fever (88%) and limb pain most common symptoms

Referenced in (1 disease)

ID: pmid-23965844DOI: 10.1136/annrheumdis-2013-204184PMID: 23965844