KEGG   DISEASE: 気管支拡張症および鼻茸
エントリ  
H02836                                                             
名称    
気管支拡張症および鼻茸
概要    
Bronchiectasis and nasal polyposis (BENP) is a novel chronic destructive airway disease characterized by bronchiectasis throughout all lung fields (upper, middle, and lower lobes) and severe chronic rhinosinusitis with nasal polyposis. It has been reported that mutations in WFDC2 cause this disease. WFDC2 is suggested to be vitally important in preventing atelectasis and dysfunction of barrier mechanisms such as mucociliary clearance, intercellular junction formation and anti-inflammatory activity.
カテゴリ  
呼吸器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 12 呼吸器系の疾患
  下気道の疾患
   CA24  気管支拡張症
    H02836  気管支拡張症および鼻茸
病因遺伝子 
WFDC2 [HSA:10406] [KO:K23636]
リンク   
ICD-11: CA24
OMIM: 620984
文献    
  著者
Dougherty GW, Ostrowski LE, Nothe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, Konig J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H
  タイトル
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
  雑誌
Am J Respir Crit Care Med 210:63-76 (2024)
DOI:10.1164/rccm.202308-1370OC
文献    
  著者
Nakajima K, Ono M, Radovic U, Dizdarevic S, Tomizawa SI, Kuroha K, Nagamatsu G, Hoshi I, Matsunaga R, Shirakawa T, Kurosawa T, Miyazaki Y, Seki M, Suzuki Y, Koseki H, Nakamura M, Suda T, Ohbo K
  タイトル
Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice.
  雑誌
Dis Model Mech 12:dmm.040139 (2019)
DOI:10.1242/dmm.040139
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