@article {Hadchouel190187, author = {Alice Hadchouel and David Drummond and Rola Abou Taam and Muriel Lebourgeois and Christophe Delacourt and Jacques de Blic}, title = {Alveolar proteinosis of genetic origins}, volume = {29}, number = {158}, elocation-id = {190187}, year = {2020}, doi = {10.1183/16000617.0187-2019}, publisher = {European Respiratory Society}, abstract = {Pulmonary alveolar proteinosis (PAP) is a rare form of chronic interstitial lung disease, characterised by the intra-alveolar accumulation of lipoproteinaceous material. Numerous conditions can lead to its development. Whereas the autoimmune type is the main cause in adults, genetic defects account for a large part of cases in infants and children. Even if associated extra-respiratory signs may guide the clinician during diagnostic work-up, next-generation sequencing panels represent an efficient diagnostic tool. Exome sequencing also allowed the discovery of new variants and genes involved in PAP. The aim of this article is to summarise our current knowledge of genetic causes of PAP.Genetic PAP occurs in young children and is often associated with a poor prognosis. Next-generation sequencing panels represent an efficient diagnostic tool. Promising treatments are currently being developed for some specific entities. https://bit.ly/2TRsJd1}, issn = {0905-9180}, URL = {https://err.ersjournals.com/content/29/158/190187}, eprint = {https://err.ersjournals.com/content/29/158/190187.full.pdf}, journal = {European Respiratory Review} }