Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …

Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …

Background Use of maintenance antibiotic therapy with the macrolide azithromycin is
increasing in a number of chronic respiratory disorders including primary ciliary dyskinesia …

Background Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia,
resulting in the accumulation of dehydrated mucus in the airways that is difficult to clear. We …

Background Bronchiectasis can result from infectious, genetic, immunological and allergic
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …

Primary ciliary dyskinesia (PCD) is a rare multiorgan disease caused by genetic mutations
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …

Background Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused
by mutations in approximately 50 cilia-related genes. PCD genotype–phenotype …

Bronchiectasis is a complex, heterogeneous disorder defined by both a radiological
abnormality of permanent bronchial dilatation and a clinical syndrome. There are multiple …

Background Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests.
High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis …