Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

doi:10.1016/j.ebiom.2025.105626

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Article

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

EBioMedicine - 1 Mar 2025

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Abstract excerpt

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 variants to demonstrate the role of LAMP3 in pathology. METHODS: LAMP3...

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Identifiers

PMID: 40023045
DOI: 10.1016/j.ebiom.2025.105626
PMCID: PMC11914748

Genes

LAMP3

Variants

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