Nasal Nitric Oxide May Not Differentiate Primary Ciliary Dyskinesia from
Certain Primary Immunodeficiencies
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 (APDS1 or PIK3CD) and
PCD. We highlight the importance of repeating nasal nitric oxide testing
(nNO) when PCD has not been confirmed by genetic or ciliary electron
micrograph (EM) analysis in the setting of an expanded suppurative lung
disease differential that includes considerations for immunodeficiency
as well as PCD.
