No relevant rare or private variants in other genes for which mutations are known to be associated with PAP [14–16] (namely, ADA, ABCA3, CSF2RA, CSF2RB, GATA2, MARS, NKX21, RAB5B, SFTPB, SFTPC, and SLC7A7), or susceptibility to mycobacterial disease [17] were identified by WES. Here, CSF2RA is linked to pulmonary alveolar proteinosis.