Table 1 Clinical characteristics by genotype the of PCD patients that provided cell samples for the study.
DNAH5 | CCDC39 | DNAH11 | WT1 | WT2 | |
|---|---|---|---|---|---|
Mutation | c.10815del c.13309del | c.357 + 1G > C c.357 + 1G > C | c.7904_7914 + 643del c.7904_7914 + 643del | N/A | N/A |
Age at sample | 3 years | 18 years | 6 months | 40 years | 52 years |
Age at diagnosis | 2 years | 13 years | 6 months | N/A | N/A |
Infection present at time of collection | No | No | No | No | No |
Treatment with azithromycin | No | No | No | No | No |
Treatment with corticosteroids | Inhaled yes | No | No | No | No |
FEV1 at diagnosis | NA | 80%-pred | NA | 100%-pred | 102%-pred |
