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High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Théou-Anton N, Kannengiesser C, Ba I, Debray MP, Fanen P, Manali E, Papiris S, Nathan N, Amselem S, Gondouin A, Guillaumot A, Andréjak C, Jouneau S, Beltramo G, Uzunhan Y, Galodé F, Westeel V, Mehdaoui A, Hirschi S, Leroy S, Marchand-Adam S, Nunes H, Picard C, Prévot G, Reynaud-Gaubert M, De Vuyst P, Wemeau L, Defossez G, Zalcman G, Cottin V, Borie R; OrphaLung network. Brudon A, et al. Eur Respir J. 2024 May 2;63(5):2301809. doi: 10.1183/13993003.01809-2023. Print 2024 May. Eur Respir J. 2024. PMID: 38575158 Free PMC article.
RESULTS: We identified 99 SRG adult variant carriers (SFTPA1 (n=18), SFTPA2 (n=31), SFTPC (n=24), ABCA3 (n=14) and NKX2-1 (n=12)), including 20 (20.2%) with lung cancer (SFTPA1 (n=7), SFTPA2 (n=8), SFTPC (n=3), NKX2-1 (n=2) and ABCA3 (n=0)). ...
RESULTS: We identified 99 SRG adult variant carriers (SFTPA1 (n=18), SFTPA2 (n=31), SFTPC (n=24), ABCA3 (n=14) and NKX2-1 (n=12)), in …
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X, Forstner M, Rapp CK, Rothenaigner I, Li Y, Hadian K, Griese M. Yang X, et al. Int J Mol Sci. 2023 May 3;24(9):8179. doi: 10.3390/ijms24098179. Int J Mol Sci. 2023. PMID: 37175887 Free PMC article.
Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may cause interstitial lung diseases in children (chILD) and adults. ...We generated evi …
Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is …
ABCA3-related interstitial lung disease beyond infancy.
Li Y, Seidl E, Knoflach K, Gothe F, Forstner ME, Michel K, Pawlita I, Gesenhues F, Sattler F, Yang X, Kroener C, Reu-Hofer S, Ley-Zaporozhan J, Kammer B, Krüger-Stollfuß I, Dinkel J, Carlens J, Wetzke M, Moreno-Galdó A, Torrent-Vernetta A, Lange J, Krenke K, Rumman N, Mayell S, Sismanlar T, Aslan A, Regamey N, Proesmans M, Stehling F, Naehrlich L, Ayse K, Becker S, Koerner-Rettberg C, Plattner E, Manali ED, Papiris SA, Campo I, Kappler M, Schwerk N, Griese M. Li Y, et al. Thorax. 2023 Jun;78(6):587-595. doi: 10.1136/thorax-2022-219434. Epub 2023 Feb 20. Thorax. 2023. PMID: 36808083 Free PMC article.
This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year. METHOD: Over a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database. 44 patients surv …
This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year. METHOD: Over a 21-ye …
Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A. Onnée M, et al. Int J Mol Sci. 2021 Sep 24;22(19):10282. doi: 10.3390/ijms221910282. Int J Mol Sci. 2021. PMID: 34638622 Free PMC article.
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. ...We pinpointed amino-acids within the NBDs, the RDs and within the interfaces between the N …
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respi …
ABCA3 and LZTFL1 Polymorphisms and Risk of COVID-19 in the Czech Population.
Hubacek JA, Philipp T, Adamkova V, Majek O, Dusek L. Hubacek JA, et al. Physiol Res. 2023 Aug 31;72(4):539-543. doi: 10.33549/physiolres.935108. Physiol Res. 2023. PMID: 37795896 Free PMC article.
=?2,592; COVID-19 status unknown). Rare ABCA3 AA homozygotes (but not A allele carriers) may be at a significantly increased risk of SARS-CoV-2 infection [P?...We conclude that a common polymorphism in the ABCA3 gene may be a significant predictor of susceptibility …
=?2,592; COVID-19 status unknown). Rare ABCA3 AA homozygotes (but not A allele carriers) may be at a significantly increased risk of …
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M, Delestrain C, Hadchouel A, Mazenq J, Benhamida M, Bernard AS, Borie R, Brouard J, Corvol H, Cros P, Delacourt C, Desroziers T, Dubus JC, Egron C, Epaud R, Fayon M, Forgeron A, Giovannini-Chami L, Marguet C, Masson-Rouchaud A, Petat H, Renoux MC, Roditis L, Thumerelle C, Vigier C, L'Herminé AC, Pointe HDL, Fanen P, Fletcher C, Sileo C, Berteloot L, Louvrier C, de Becdelièvre A, Legendre M, Nathan N. Fleury M, et al. Pediatr Pulmonol. 2025 Oct;60(10):e71324. doi: 10.1002/ppul.71324. Pediatr Pulmonol. 2025. PMID: 41090249 Free PMC article.
BACKGROUND: ATP-binding cassette transporter A3 (ABCA3) deficiency is one of the most severe causes of childhood interstitial lung diseases (chILD). ...CONCLUSION: The variable presentation and outcome of chILD due to ABCA3 pathogenic variants are linked to the unde …
BACKGROUND: ATP-binding cassette transporter A3 (ABCA3) deficiency is one of the most severe causes of childhood interstitial lung di …
Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell.
Sitaraman S, Alysandratos KD, Wambach JA, Limberis MP. Sitaraman S, et al. Hum Gene Ther. 2022 Oct;33(19-20):1011-1022. doi: 10.1089/hum.2022.130. Hum Gene Ther. 2022. PMID: 36166236 Free PMC article. Review.
Pathogenic variants in the SFTPB, SFTPC, and ABCA3 genes, each of which encode proteins essential for proper pulmonary surfactant production and function, result in interstitial lung disease in infants, children, and adults, and lead to morbidity and early mortality. ...
Pathogenic variants in the SFTPB, SFTPC, and ABCA3 genes, each of which encode proteins essential for proper pulmonary surfactant pro …
Towards personalized therapies for genetic disorders of surfactant dysfunction.
Peers de Nieuwburgh M, Wambach JA, Griese M, Danhaive O. Peers de Nieuwburgh M, et al. Semin Fetal Neonatal Med. 2023 Dec;28(6):101500. doi: 10.1016/j.siny.2023.101500. Epub 2023 Nov 22. Semin Fetal Neonatal Med. 2023. PMID: 38036307 Free PMC article. Review.
This review explores genetic mechanisms underpinning surfactant dysfunction, highlighting specific surfactant-associated genes including SFTPB, SFTPC, ABCA3, and NKX2.1. Pathogenic variants in these genes contribute to a range of clinical presentations and courses, from ne …
This review explores genetic mechanisms underpinning surfactant dysfunction, highlighting specific surfactant-associated genes including SFT …
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK, Wegner DJ, Geurts LC, Heins HB, Yang P, Hamvas A, Eghtesady P, Sweet SC, Sessions Cole F, Wambach JA. Xu KK, et al. Pediatr Pulmonol. 2022 May;57(5):1325-1330. doi: 10.1002/ppul.25862. Epub 2022 Mar 17. Pediatr Pulmonol. 2022. PMID: 35170262 Free PMC article.
Additionally, monoallelic ABCA3 variants have been reported in infants and children with ABCA3-deficient phenotypes. ...We obtained lung tissue at transplant or autopsy from 16 infants and children with ABCA3 deficiency due to compound heterozygous ABCA3 …
Additionally, monoallelic ABCA3 variants have been reported in infants and children with ABCA3-deficient phenotypes. ...We obt …
ATP binding cassette member A3 (ABCA3): coming of age.
Casey A, Nogee L, Wambach J. Casey A, et al. Thorax. 2023 Jun;78(6):533-534. doi: 10.1136/thorax-2022-219972. Epub 2023 Mar 2. Thorax. 2023. PMID: 36863776 Free PMC article. No abstract available.
47 results