Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome
Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.
Authors
- Margaret W. Leigh (ORCID: https://orcid.org/0000-0002-6420-2459)
- Gülbû Uzel (ORCID: https://orcid.org/0000-0002-3942-1086)
- Sharon Dell (ORCID: https://orcid.org/0000-0003-2169-9407)
- Markus A. Rose (ORCID: https://orcid.org/0000-0001-7472-6005)
- Maimoona A. Zariwala (ORCID: https://orcid.org/0000-0003-1619-1393)
- Timothy J. Vece (ORCID: https://orcid.org/0000-0002-0645-8923)
- Adam J. Shapiro (ORCID: https://orcid.org/0000-0001-6066-6750)
- Déborah Morris-Rosendahl (ORCID: https://orcid.org/0000-0002-7780-4707)
- Michael R. Knowles (ORCID: https://orcid.org/0000-0002-4672-5969)
- Stephanie D. Davis (ORCID: https://orcid.org/0000-0002-9390-0651)
- Scott D. Sagel (ORCID: https://orcid.org/0000-0001-6172-4465)
- Cullen M. Dutmer (ORCID: https://orcid.org/0000-0001-9806-4739)
- Thomas W. Ferkol (ORCID: https://orcid.org/0000-0003-2477-9357)
- Michael G. O’Connor (ORCID: https://orcid.org/0000-0003-0571-8241)
- Ricardo A. Mosquera (ORCID: https://orcid.org/0000-0002-5350-331X)
- Eveline Y. Wu (ORCID: https://orcid.org/0000-0002-6394-6843)
- Chi A. (ORCID: https://orcid.org/0000-0003-1923-5961)
- Kenneth N. Olivier
Institutions
- University of North Carolina at Chapel Hill (US)
- National Institutes of Health (US)
- Vanderbilt University (US)
- Royal Brompton & Harefield NHS Foundation Trust (GB)
- McGill University Health Centre (CA)
- Harefield Hospital (GB)
- National Institute of Allergy and Infectious Diseases (US)
- Institute for Clinical Evaluative Sciences (CA)
- Klinikum Stuttgart (DE)
- University of Colorado Anschutz Medical Campus (US)
- The University of Texas Health Science Center at Houston (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- The Journal of Pediatrics
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1016/j.jpeds.2025.114499
- Citations
- 2
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 3.04
Funders
- Cystic Fibrosis Foundation
- Rare Diseases Clinical Research Network
- National Institutes of Health