PAP is an ultra-rare disease, caused by mutations in the genes for surfactant protein-B (SFTPB), surfactant protein-C (SFTPC) and member A3 of the TB-binding cassette family of transporters (ABCA3) leading to the accumulation of surfactant components in the alveolae, and thus, impairing gas exchange [123,124]. This evidence concerns the gene SFTPB and pulmonary alveolar proteinosis.