KEGG   DISEASE: Autoinflammation with infantile enterocolitis
エントリ  
H01748                                                             

名称    
Autoinflammation with infantile enterocolitis
概要    
Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.
カテゴリ  
免疫系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  その他の免疫系疾患
   H01748  Autoinflammation with infantile enterocolitis
ICD-11 による疾患分類 [BR:jp08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A6Y  Other specified autoinflammatory disorders
    H01748  Autoinflammation with infantile enterocolitis
病因遺伝子 
NLRC4 [HSA:58484] [KO:K12805]
リンク   
ICD-11: 4A6Y
ICD-10: D89.8
OMIM: 616050
文献    
  著者
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R
  タイトル
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
  雑誌
Nat Genet 46:1140-6 (2014)
DOI:10.1038/ng.3089
文献    
  著者
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP
  タイトル
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
  雑誌
Nat Genet 46:1135-9 (2014)
DOI:10.1038/ng.3066
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