Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.
Eun Hye ChoChange Seok KiSun Ae YunSu Young KimByung Woo JhunWon-Jung KohHee Jae HuhNam Yong LeePublished in: Yonsei medical journal (2021)
At least 30.8% of NTM-LD patients who were suspected of having PCD had biallelic LoF variants, and an additional 30.8% of patients had one LoF variant. Therefore, PCD should be considered in patients with NTM-LD with symptoms or signs suspicious of PCD.