KEGG   DISEASE: 自己炎症-汎血球減少症候群
エントリ  
H02608                                                             
名称    
自己炎症-汎血球減少症候群
概要    
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy, and increased anti-DNA antibodies. Studies have identified mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   3A70  再生不良性貧血
    H02608  自己炎症-汎血球減少症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 免疫系
  nt06520  CGAS-STING シグナリング
   H02608  自己炎症-汎血球減少症候群
パスウェイ 
hsa04623  Cytosolic DNA-sensing pathway
ネットワーク
nt06520 CGAS-STING signaling
病因遺伝子 
DNASE2 [HSA:1777] [KO:K01158]
リンク   
ICD-11: 3A70.0
OMIM: 619858
文献    
  著者
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Fremond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ
  タイトル
Type I interferon-mediated autoinflammation due to DNase II deficiency.
  雑誌
Nat Commun 8:2176 (2017)
DOI:10.1038/s41467-017-01932-3
文献    
  著者
MacLauchlan S, Fitzgerald KA, Gravallese EM
  タイトル
Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.
  雑誌
Arthritis Rheumatol 74:1615-1624 (2022)
DOI:10.1002/art.42256
LinkDB    

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