KEGG DISEASE: Bronchiectasis and nasal polyposis

KEGG

DISEASE: Bronchiectasis and nasal polyposis

Entry

H02836                      Disease

Name

Bronchiectasis and nasal polyposis

Description

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.

Category

Respiratory system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
  Certain lower respiratory tract diseases
   CA24  Bronchiectasis
    H02836  Bronchiectasis and nasal polyposis

Gene

WFDC2 [HSA:10406] [KO:K23636]

Other DBs

ICD-11:

OMIM:

Reference

Authors

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

Title

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Journal

Am J Respir Crit Care Med 210:63-76 (2024)
DOI:10.1164/rccm.202308-1370OC

Reference

Authors

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

Title

Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice.

Journal

Dis Model Mech 12:dmm.040139 (2019)
DOI:10.1242/dmm.040139

LinkDB

» Japanese version

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