KEGG   DISEASE: 肺および皮膚血管炎を伴う自己炎症性疾患
エントリ  
H02660                                                             
名称    
肺および皮膚血管炎を伴う自己炎症性疾患
概要    
Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV is caused by a de novo activating mutation in hematopoietic cell kinase (HCK). HCK is a member of the Src family of non-receptor tyrosine kinases.
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
    H02660  肺および皮膚血管炎を伴う自己炎症性疾患
病因遺伝子 
HCK [HSA:3055] [KO:K08893]
リンク   
ICD-11: 4A60.Y
OMIM: 620296
文献    
PMID:34536415
  著者
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J
  タイトル
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
  雑誌
J Allergy Clin Immunol 149:1464-1472.e3 (2022)
DOI:10.1016/j.jaci.2021.07.046
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