KEGG   DISEASE: TNF受容体関連周期性症候群
エントリ  
H00912                                                             
名称    
TNF受容体関連周期性症候群
概要    
The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile attacks and localized inflammation in the absence of autoantibodies. Recurrent fever, abdominal pain, myalgia, and arthralgia are the most common manifestations of TRAPS.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  自己炎症性疾患
   4A60  単一遺伝子性自己炎症性疾患
    H00912  TNF受容体関連周期性症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06516  TNF シグナリング
   H00912  TNF受容体関連周期性症候群
 細胞プロセス
  nt06527  ネクロトーシス
   H00912  TNF受容体関連周期性症候群
指定難病 [jp08407.html]
 H00912
パスウェイ 
hsa04668  TNF signaling pathway
hsa04064  NF-kappa B signaling pathway
hsa04217  Necroptosis
ネットワーク
nt06516 TNF signaling
nt06527 Necroptosis
病因遺伝子 
TNFRSF1A [HSA:7132] [KO:K03158]
治療薬   
カナキヌマブ [DR:D09315]
リンク   
ICD-11: 4A60.2
ICD-10: R50
MeSH: C536657
OMIM: 142680
文献    
  著者
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL
  タイトル
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
  雑誌
Medicine (Baltimore) 81:349-68 (2002)
DOI:10.1097/00005792-200209000-00002
文献    
  著者
Rezaei N
  タイトル
TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.
  雑誌
Clin Rheumatol 25:773-7 (2006)
DOI:10.1007/s10067-005-0198-6
文献    
  著者
Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, Silva CA
  タイトル
TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.
  雑誌
Eur J Pediatr 167:1421-5 (2008)
DOI:10.1007/s00431-008-0685-2

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