Nasal nitric oxide May not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies

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.

Automated summary

The diagnosis of primary ciliary dyskinesia (PCD) relies on clinical features and diagnostic tests. This study shows the similarities between specific immunodeficiency activated phosphatidylinositol 3-kinase delta syndrome 1 (PIK3CD-related disorder) and PCD in terms of clinical presentation. The importance of repeating nasal nitric oxide testing is highlighted when genetic or ciliary electron micrograph analysis has not confirmed PCD, especially in cases of expanded suppurative lung disease with considerations for immunodeficiency.