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

> **NIH NIH U54** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2021 · $512,984

## Abstract

The overall goals for Project 1 are to define the clinical and laboratory features of pediatric and
adult patients with rare suppurative respiratory diseases, and identify the genetic cause of the
disorders. This study will be performed through the 8-site rare disease Genetic Disorders of
Mucociliary Clearance (GDMCC) Consortium in North America. Pulmonary physicians and
immunologists have referrals of some patients with recurrent infections and suppurative
respiratory disease due to rare genetic defects in cilia function (primary ciliary dyskinesia, PCD)
and/or genetic defects in host immune function (primary immunodeficiencies, PID). If not
appropriately diagnosed and treated, these patients have progressive airway damage and
decline in lung function over time. Genetic discoveries over the past two decades have identified
many genetic causes of PCD (mutations in 40 genes) and PID (mutations in > 350 genes).
However, there is an overlap of clinical features of patients with rare disorders with more
common diseases, such as asthma and recurrent viral illnesses; thus, recognition of these rare
disorders is challenging for pulmonary and immunology physicians. The GDMCC Consortium
will perform a systematic diagnostic evaluation of patients who are referred with suppurative
lung disease of unknown etiology, utilizing a multidisciplinary collaborative effort by pulmonary
and immunology experts. After standardized clinical and lab workup, genetic testing will be
performed to identify which patients have PCD or PID, and which defective gene is causative.
Collaborative support from NIAID (Drs. Steve Holland and Luigi Notarangelo) and NHLBI (Dr.
Ken Olivier) will offer specialized laboratory capabilities for functional studies of immunologic
genetic variants. Successful completion of this project will establish guiding principles for the
recognition of PID or PCD in patients presenting with suppurative respiratory disease.
Establishing a diagnosis will enable clinical monitoring and tailored care to slow or prevent the
progression of lung disease and decline in lung function, including the use of novel genetic
defect-specific therapeutics.

## Key facts

- **NIH application ID:** 10237189
- **Project number:** 5U54HL096458-18
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Michael R Knowles
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $512,984
- **Award type:** 5
- **Project period:** 2004-08-06 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10237189

## Citation

> US National Institutes of Health, RePORTER application 10237189, Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults (5U54HL096458-18). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10237189. Licensed CC0.

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