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Updated: Sep 22, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Nasal nitric oxide May not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies
Jessica L Saunders1, Michael Glenn O'Connor2, Evans M Machogu1
1Division of Pediatric Pulmonary, Allergy and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Abstract:
The diagnosis of primary ciliary dyskinesia (PCD) is made through a combination of clinical features supported by a panel of diagnostic tests. Our cases highlight the similarities in the clinical presentation of patients with the specific immunodeficiency activated phosphatidylinositol 3-kinase delta syndrome 1 (or PIK3CD-related disorder) and PCD. We highlight the importance of repeating nasal nitric oxide testing when PCD has not been confirmed by genetic or ciliary electron micrograph analysis in the setting of an expanded suppurative lung disease differential that includes considerations for immunodeficiency as well as PCD.
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