KEGG   DISEASE: 血管炎を伴う全身性自己炎症性疾患
エントリ  
H02672                                                             
名称    
血管炎を伴う全身性自己炎症性疾患
概要    
Systemic autoinflammatory disease with vasculitis (SAIDV) is a severe perinatal-onset, systemic inflammation. It has been reported that gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and plays an important role in the regulation of innate and adaptive immune responses.
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
    H02672  血管炎を伴う全身性自己炎症性疾患
病因遺伝子 
LYN [HSA:4067] [KO:K05854]
リンク   
ICD-11: 4A60.Y
OMIM: 620376
文献    
  著者
Louvrier C, El Khouri E, Grall Lerosey M, Quartier P, Guerrot AM, Bader Meunier B, Chican J, Mohammad M, Assrawi E, Daskalopoulou A, Arenas Garcia A, Copin B, Piterboth W, Dastot Le Moal F, Karabina SA, Amselem S, Giurgea I
  タイトル
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
  雑誌
Arthritis Rheumatol 75:468-474 (2023)
DOI:10.1002/art.42354
文献    
  著者
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R
  タイトル
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
  雑誌
Nat Commun 14:1502 (2023)
DOI:10.1038/s41467-023-36941-y
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