Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.
Authors:Louvrier C,Desroziers T,Soreze Y,Delgado Rodriguez M,Thomas L,Nau V,Dastot-Le Moal F,Bernstein JA,Cole FS,Damme M,Fischer A,Griese M,Hinds D,Keehan L,Milla C,Mohammad H,Rips J,Wambach JA,Wegner DJ,Amselem S,Legendre M,Giurgea I,Karabina SA,Breuer O,Coulomb l'Herminé A,Nathan N
Journal:EBioMedicine
PubMed ID:40023045
BACKGROUND: LAMP3 encodes a lysosomal membrane protein associated with lamellar bodies and has recently been proposed as a candidate gene for childhood interstitial lung diseases (chILD). Here, we identified two LAMP3 variants in a proband with chILD and performed functional validation of these variants as well as the previously reported ... More