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

Participation Requirements

• Sex:

  ALL

• Eligible Ages:

  5 to 45

Participation Criteria

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 immunosuppression therapy
* Other confounding features, such as lung disease due to prematurity (born \< 28 weeks gestation) or HIV
* Neurological compromise and evidence of recurrent aspiration
* Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
* Have not had standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration or airway anatomic abnormalities.