Figure 2.

Cohort of 39 patients with pathogenic ABCA3 variants and treated with HCQ, sorted by age of lung disease onset and clinical severity. Data of patients 3, 14, 15, 16, 27, 28, 29, 30, and 31 were retrieved from the literature, and the other cases were from the Kids Lung Register (see Table S5). Start and duration of HCQ treatment varied largely. In most of the patients who survived a clinical response (in vivo, columns 3 and 4 from right) to HCQ treatment was noted, whereas, in those who dead, only transient or no responses were noted. The in vitro responses to HCQ (column 2 from right) where available were correlated to the in vivo responses.