Clinical and Research Innovations in Childhood Interstitial Lung Disease (chILD)

Overview

Journal Pediatr Pulmonol

Specialties Pediatrics
Pulmonary Medicine

Date 2024 Apr 23

PMID 38651871

Authors

Jennifer A Wambach

Timothy J Vece

Affiliations

Soon will be listed here.

References

Ardini-Poleske M, Clark R, Ansong C, Carson J, Corley R, Deutsch G . LungMAP: The Molecular Atlas of Lung Development Program. Am J Physiol Lung Cell Mol Physiol. 2017; 313(5):L733-L740. PMC: 5792185. DOI: 10.1152/ajplung.00139.2017. View

Alapati D, Zacharias W, Hartman H, Rossidis A, Stratigis J, Ahn N . In utero gene editing for monogenic lung disease. Sci Transl Med. 2019; 11(488). PMC: 6822403. DOI: 10.1126/scitranslmed.aav8375. View

Pradhan A, Che L, Ustiyan V, Reza A, Pek N, Zhang Y . Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2022; 207(8):1042-1054. PMC: 10112450. DOI: 10.1164/rccm.202207-1332OC. View

Kroner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D . Lung disease caused by mutations. Thorax. 2016; 72(3):213-220. DOI: 10.1136/thoraxjnl-2016-208649. View

Huang H, Pan J, Spielberg D, Hanchard N, Scott D, Burrage L . A dominant negative variant of disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022; 119(6). PMC: 8832968. DOI: 10.1073/pnas.2105228119. View

Deterding R, DeBoer E, Cidon M, Robinson T, Warburton D, Deutsch G . Approaching Clinical Trials in Childhood Interstitial Lung Disease and Pediatric Pulmonary Fibrosis. Am J Respir Crit Care Med. 2019; 200(10):1219-1227. PMC: 6945798. DOI: 10.1164/rccm.201903-0544CI. View

Kang M, van Lieshout L, Xu L, Domm J, Vadivel A, Renesme L . A lung tropic AAV vector improves survival in a mouse model of surfactant B deficiency. Nat Commun. 2020; 11(1):3929. PMC: 7414154. DOI: 10.1038/s41467-020-17577-8. View

Jacob A, Morley M, Hawkins F, McCauley K, Jean J, Heins H . Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells. Cell Stem Cell. 2017; 21(4):472-488.e10. PMC: 5755620. DOI: 10.1016/j.stem.2017.08.014. View

Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg M . Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014; 124(12):5516-20. PMC: 4348945. DOI: 10.1172/JCI79100. View

10.

Shteinberg M, Taylor-Cousar J . Impact of CFTR modulator use on outcomes in people with severe cystic fibrosis lung disease. Eur Respir Rev. 2020; 29(155). PMC: 9488599. DOI: 10.1183/16000617.0112-2019. View

11.

Peers de Nieuwburgh M, Wambach J, Griese M, Danhaive O . Towards personalized therapies for genetic disorders of surfactant dysfunction. Semin Fetal Neonatal Med. 2023; 28(6):101500. PMC: 10753445. DOI: 10.1016/j.siny.2023.101500. View

12.

Griese M, Kappler M, Stehling F, Schulze J, Baden W, Koerner-Rettberg C . Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease. Orphanet J Rare Dis. 2022; 17(1):289. PMC: 9308121. DOI: 10.1186/s13023-022-02399-2. View

13.

Liptzin D, Patel T, Deterding R . Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation. Am J Respir Crit Care Med. 2015; 191(11):1338-40. PMC: 4476515. DOI: 10.1164/rccm.201411-1955LE. View

14.

Alysandratos K, Russo S, Petcherski A, Taddeo E, Acin-Perez R, Villacorta-Martin C . Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease. Cell Rep. 2021; 36(9):109636. PMC: 8432578. DOI: 10.1016/j.celrep.2021.109636. View

15.

Kurland G, Deterding R, Hagood J, Young L, Brody A, Castile R . An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 2013; 188(3):376-94. PMC: 3778735. DOI: 10.1164/rccm.201305-0923ST. View

16.

Kroner C, Reu S, Teusch V, Schams A, Grimmelt A, Barker M . Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J. 2015; 46(1):197-206. DOI: 10.1183/09031936.00129414. View

17.

Antonellis A, Oprescu S, Griffin L, Heider A, Amalfitano A, Innis J . Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat. 2018; 39(6):834-840. PMC: 5992071. DOI: 10.1002/humu.23424. View

18.

Watkin L, Jessen B, Wiszniewski W, Vece T, Jan M, Sha Y . COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015; 47(6):654-60. PMC: 4513663. DOI: 10.1038/ng.3279. View

19.

Katzen J, Wagner B, Venosa A, Kopp M, Tomer Y, Russo S . An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis. JCI Insight. 2019; 4(6). PMC: 6483196. DOI: 10.1172/jci.insight.126125. View

20.

Liu Y, Jesus A, Marrero B, Yang D, Ramsey S, Sanchez G . Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014; 371(6):507-518. PMC: 4174543. DOI: 10.1056/NEJMoa1312625. View