ArticleSarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG2022
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.
Article in Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 4 citations in OpenAlex.
- Genetic susceptibility to interstitial lung disease: a case ofQuantitative imaging in medicine and surgery · 2025Article
- A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.Italian journal of pediatrics · 2025Article
- Article
- Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency.ERJ open research · 2025Article
- Case of familial interstitial lung disease attributed to ATP-binding cassette transporter 3 gene mutation in identical twins.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2024Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Article
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11 authors at 1 institution in 1 country.
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Abstract
objectiveThe gene mutations responsible for ABCA3 protein deficiency are involved in respiratory distress of the newborn and much more rarely in adult interstitial lung diseases (ILD). An adult patient homozygous for a complex allele encompassing the p.Ala1027Pro likely pathogenic mutation and the p.Gly974Asp variation was followed for a late-onset and fibrotic ILD. The evolution was marked by progressive clinical and functional degradation despite corticosteroid pulses. The patient, who was first registered on the list for lung transplantation, was improved quickly and persistently for at least 6.5 years with hydroxychloroquine treatment, allowing removal from the transplant list.
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