Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Amelia ShoemarkHelen GriffinGabrielle WhewayClaire HoggJane S A Lucasnull nullCarme CampsJenny TaylorMary CarrollMichael R LoebingerJames D ChalmersDeborah Morris-RosendahlHannah M MitchisonAnthony De Soyzanull nullD BrownJ C AmbroseP ArumugamR BeversM BledaF Boardman-PrettyC R BoustredH BrittainM J CaulfieldG C ChanT FowlerA GiessA HamblinS HendersonT J P HubbardR JacksonL J JonesD KasperaviciuteM KayikciA KousathanasL LahnsteinS E A LeighI U S LeongF J LopezF Maleady-CroweM McEntagartF MinneciL MoutsianasM MuellerN MurugaesuA C NeedP O'DonovanC A OdhamsC PatchD Perez-GilM B PereiraJ PullingerT RahimA RendonT RogersK SavageK SawantR H ScottA SiddiqA SieghartS C SmithA SosinskyA StuckeyM TanguyA L Taylor TavaresE R A ThomasS R ThompsonA TucciM J WellandE WilliamsK WitkowskaS M WoodPublished in: The European respiratory journal (2022)
PCD is underdiagnosed as a cause of bronchiectasis. Increased uptake of genetic testing may help to identify bronchiectasis due to motile ciliopathies and ensure appropriate management.