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

Authors

• 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

Language

English

Publication Date

5-1-2025

Journal

The Journal of Pediatrics

DOI

10.1016/j.jpeds.2025.114499

PMID

39922272

PMCID

PMC12351481

PubMedCentral® Posted Date

5-1-2026

PubMedCentral® Full Text Version

Author MSS

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

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

Published Open-Access

yes

Recommended Citation

Shapiro, Adam J; Wu, Eveline Y; Morris-Rosendahl, Deborah J; et al., "Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome" (2025). Faculty, Staff and Student Publications. 4229.
https://digitalcommons.library.tmc.edu/uthmed_docs/4229