Bronchiectasis are irreversible dilatations of the bronchial lumen that result from a complex vicious cycle consisting of injury to the mucociliary system, inflammation, infection, and airway repair. Around 25-45% of cases are idiopathic. Clinically, they usually present with chronic coughing and expectoration, recurring exacerbations due to superinfection, and a progressive decline in pulmonary function requiring repeated antibiotic treatment. Identifying the genetic origin of these disorders has implications not only for family counseling but also for specific therapeutic management.

The main genetic disorders associated with the development of bronchiectasis are cystic fibrosis, primary ciliary dyskinesia, alpha-1 antitrypsin deficiency, and primary immunodeficiencies. Additionally, numerous studies have demonstrated that the presence of mutations in amiloride-sensitive sodium channels (ENaC) or the presence of a CTFR mutation associated with a trans- mutation in these channels constitutes a risk factor for bronchiectasis. The bronchiectasis panel covers the main genes associated with the described pathologies.

Bronchiectasis panel [48 genes]

In cases where a comprehensive study is indicated, we suggest complementing this panel with the primary immunodeficiency panel, available at immunoHIC.

ARMC4 CCDC39 CCDC40 CCDC65 CCDC103
CCDC114 CCDC151 CCNO CENPF C21orf59
C11orf70 CFTR DNAAF1 DNAAF2 DNAAF3
DNAAF4 DNAAF5 DNAH1 DNAH5 DNAH8
DNAH9 DNAH11 DNAI1 DNAI2 DNAJB13
DNAL1 DRC1 GAS8 HYDIN INVS
LRRC56 LRRC6 MCIDAS NME8 OFD1
PIH1D3 RPGR RSPH1 RSPH3 RSPH4A
RSPH9 SERPINA1 SCNN1A SCNN1B SCNN1G
SPAG1 TTC25 ZMYND10