Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

Pediatric subjects (aged 5-17 years): Inclusion criteria include the major criterion (bronchiectasis in > 1 lobe on current or chest CT in previous 24 months, if available for review), plus one minor criterion, or two minor criteria, if bronchiectasis is not present, (including at least 1 "lung" minor criteria).

Adult subjects (aged 18-45 years): Inclusion criteria include the major criteria (bronchiectasis in > 1 lobe on current or chest CT in previous 36 months, if available for review), plus one minor criterion, or three minor criteria, if bronchiectasis is not present, (including at least 1 "lung" minor criteria).

Inclusion Criteria:

General Criteria

• Age 5-45 years

• Male and Female Subjects

• All races and ethnicities

Major Clinical Criteria

• Bronchiectasis in > 1 lobe

Minor Clinical Criteria, Lung

• Neonatal respiratory distress (in term neonates with O2 requirement)

• Chronic wet cough (year-round for at least 12 months)

• Recurrent episodes of bacterial bronchitis

• Recurrent pneumonia (confirmed on chest x-ray)

• Respiratory non-tuberculous mycobacteria (NTM) (documented respiratory NTM culture)

Minor Clinical Criteria, Other

• Chronic nasal congestion

• Recurrent/chronic paranasal sinusitis

• Ongoing middle-ear disease and/or tympanostomy tube placement at age ≥ 4 years

• Organ laterality defect

• Low nasal nitric oxide (< 77 nL/min) (by plateau measurement)

• Confirmed family history of PID or PCD

Exclusion Criteria:

• Anyone who has a confirmed genetic diagnosis of PCD or PID

• Cystic Fibrosis

• Alpha-antitrypsin deficiency in adults (18 years and older)

• Congenital upper or lower airway anomalies

• Post-lung or heart transplant, or other conditions requiring immunosuppressiontherapy

• Other confounding features, such as lung disease due to prematurity (born < 28 weeksgestation) or HIV

• Neurological compromise and evidence of recurrent aspiration

• Conditions known to be commonly associated with bronchiectasis, such as priormycobacterium tuberculosis

• Have not had standard clinical evaluation to address other potential causes ofchronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration orairway anatomic abnormalities.