A Case Presenting with the Clinical Characteristics of Tumor Necrosis Factor (TNF) Receptor-associated Periodic Syndrome (TRAPS) without TNFRSF1A Mutations Successfully Treated with Tocilizumab

作者：Hosoya Tadashi; Mizoguchi Fumitaka; Hasegawa Hisanori; Miura Keiko; Koike Ryuji; Kubota Tetsuo; Miyasaka Nobuyuki; Kohsaka Hitoshi^*

来源：Internal Medicine, 2015, 54(16): 2069-2072.

DOI：10.2169/internalmedicine.54.3371

• autoinflammatory syndrome
• mutation-negative patient
• TNF receptor-associated periodic syndrome (TRAPS)
• tocilizumab

A 30-year-old woman had suffered from recurrent and self-limiting fevers since childhood. Although she had no mutations in the exons or introns of the tumor necrosis factor (TNF) receptor superfamily member 1A gene, her clinical characteristics were consistent with those of TNF receptor-associated periodic syndrome (TRAPS). She did not respond to treatment with etanercept, although tocilizumab therapy was successful, subsequently ameliorating her symptoms and preventing further inflammatory attacks. Interleukin-6 blocking therapy should be considered as a new alternative treatment in patients with TRAPS who do not respond to etanercept.

• 出版日期2015