Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

Adam J Shapiro; Eveline Y Wu; Deborah J Morris-Rosendahl; Kenneth N Olivier; Sharon D Dell; Scott D Sagel; Cullen M Dutmer; Ricardo A Mosquera; Markus Rose; Michael G O'Connor; Chi A Ma; Gulbu Uzel; Timothy J Vece; Maimoona A Zariwala; Michael R Knowles; Margaret W Leigh; Stephanie D Davis; Thomas W Ferkol

doi:10.1016/j.jpeds.2025.114499

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

J Pediatr. 2025 May:280:114499. doi: 10.1016/j.jpeds.2025.114499. Epub 2025 Feb 6.

Authors

Adam J Shapiro¹, Eveline Y Wu², Deborah J Morris-Rosendahl³, Kenneth N Olivier⁴, Sharon D Dell⁵, Scott D Sagel⁶, Cullen M Dutmer⁶, Ricardo A Mosquera⁷, Markus Rose⁸, Michael G O'Connor⁹, Chi A Ma¹⁰, Gulbu Uzel¹⁰, Timothy J Vece², Maimoona A Zariwala¹¹, Michael R Knowles¹², Margaret W Leigh², Stephanie D Davis², Thomas W Ferkol²

Affiliations

¹ Department of Pediatrics, McGill University Health Centre Research Institute, Montreal, QC, Canada. Electronic address: Adam.shapiro@muhc.mcgill.ca.
² Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
³ Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust and Imperial College London, NHLI, London, United Kingdom.
⁴ Department of Medicine, University of North Carolina, Chapel Hill, NC.
⁵ Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada.
⁶ Department of Pediatrics, University of Colorado, Aurora, CO.
⁷ Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX.
⁸ Pediatric Pulmonology and Allergy, Klinikum Stuttgart, Stuttgart, Germany.
⁹ Department of Pediatrics, Vanderbilt University, Nashville, TN.
¹⁰ National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
¹¹ Department of Pediatrics, University of North Carolina, Chapel Hill, NC; Marsico Lung Institute, University of North Carolina, Chapel Hill, NC.
¹² Department of Medicine, University of North Carolina, Chapel Hill, NC; Marsico Lung Institute, University of North Carolina, Chapel Hill, NC.

PMID: 39922272
PMCID: PMC12351481 (available on 2026-05-01)
DOI: 10.1016/j.jpeds.2025.114499

Abstract

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.

Keywords: APDS1; PIK3CD; activated PI3K delta syndrome; nasal nitric oxide; primary ciliary dyskinesia.

Publication types

Case Reports

MeSH terms

Adolescent
Child
Child, Preschool
Ciliary Motility Disorders* / diagnosis
Ciliary Motility Disorders* / genetics
Class I Phosphatidylinositol 3-Kinases
Female
Humans
Male
Phenotype
Primary Immunodeficiency Diseases
Young Adult

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

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