ABCA3 mutations in adults with interstitial lung disease: is there a link?

ABCA3 mutations in adults with interstitial lung disease: is there a link?

Authors

  • Ramcés Falfán-Valencia HLA LaboratoryInstituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico

Keywords:

ABCA3, interstitial lung disease, ABCA3 mutations

References

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Sessions Cole F, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med [Internet]. 2014;189(12):1538–43. Available from: http://evs.gs.washington.edu/

Klay D, Platenburg MGJP, Van Rijswijk RHNAJ, Grutters JC, Van Moorsel CHM. ABCA3 mutations in adult pulmonary fibrosis patients: A case series and review of literature. Curr Opin Pulm Med [Internet]. 2020 May 1 [cited 2022 Jun 13];26(3):293–301. Available from: https://journals.lww.com/co-pulmonarymedicine/Fulltext/2020/05000/ABCA3_mutations_in_adult_pulmonary_fibrosis.15.aspx

Xu KK, Wegner DJ, Geurts LC, Heins HB, Yang P, Hamvas A, et al. Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency. Pediatr Pulmonol [Internet]. 2022 May 1 [cited 2022 Jun 13];57(5):1325–30. Available from: https://pubmed.ncbi.nlm.nih.gov/35170262/

Savova V, Chun S, Sohail M, Mccole RB, Witwicki R, Gai L, et al. Genes with monoallelic expression contribute disproportionately to genetic diversity in humans. Nat Genet 2016 483 [Internet]. 2016 Jan 25 [cited 2022 Jun 13];48(3):231–7. Available from: https://www.nature.com/articles/ng.3493

Legendre M, Darde X, Ferreira M, et al. The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature: ABCA3 mutations and hydroxychloroquine. Sarcoidosis Vasc Diffuse Lung Dis 2022;39(2):e2022019

Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, et al. Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ open Respir Res [Internet]. 2014 Dec 10 [cited 2022 Jun 14];1(1). Available from: https://pubmed.ncbi.nlm.nih.gov/25553246/

Wambach JA, Yang P, Wegner DJ, Heins HB, Kaliberova LN, Kaliberov SA, et al. Functional characterization of ATP-binding cassette transporter A3 Mutations from Infants with respiratory distress syndrome. Am J Respir Cell Mol Biol [Internet]. 2016 Nov 1 [cited 2022 Jun 14];55(5):716–21. Available from: http://annovar.openbioinformatics.org/en/

Shaaban W, Hammoud M, Abdulraheem A, Elsayed YY, Alkazemi N. Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report. J Med Case Rep [Internet]. 2021 Dec 1 [cited 2022 Jun 14];15(1):1–5. Available from: https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-020-02604-5

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Published

29-06-2022

Issue

Section

Editorial

How to Cite

1.
Falfán-Valencia R. ABCA3 mutations in adults with interstitial lung disease: is there a link?. Sarcoidosis Vasc Diffuse Lung Dis [Internet]. 2022 Jun. 29 [cited 2025 Apr. 10];39(2):e2022022. Available from: https://mattioli1885journals.com/index.php/sarcoidosis/article/view/13370