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

Main Article Content

Ramcés Falfán-Valencia


ABCA3, interstitial lung disease, ABCA3 mutations


Download data is not yet available.
Abstract 536 | PDF Downloads 278


1. 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:
2. 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:
3. 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:
4. 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:
5. 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
6. 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:
7. 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:
8. 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:

Most read articles by the same author(s)