ArticleEuropean respiratory review : an official journal of the European Respiratory Society2020
Alveolar proteinosis of genetic origins.
Article in European respiratory review : an official journal of the European Respiratory Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- The Impact of Genetics on Pediatric Interstitial Lung Diseases: A Narrative Literature Review and Clinical Implications.Biomedicines · 2026Review
- Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.Respirology (Carlton, Vic.) · 2026Article
- Clinical approach for pulmonary alveolar proteinosis in children.World journal of clinical cases · 2024Article
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Pathogenesis-driven treatment of primary pulmonary alveolar proteinosis.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Anti-cytokine autoantibodies: mechanistic insights and disease associations.Nature reviews. Immunology · 2024Review
- Article
- [Congenital pulmonary alveolar proteinosis in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- The world of rare interstitial lung diseases.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Allogeneic Hematopoietic Stem Cell Transplantation After Prior Lung Transplantation for Hereditary Pulmonary Alveolar Proteinosis: A Case Report.Frontiers in immunology · 2022Article
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pulmonary alveolar proteinosis (PAP) is a rare form of chronic interstitial lung disease, characterised by the intra-alveolar accumulation of lipoproteinaceous material. Numerous conditions can lead to its development. Whereas the autoimmune type is the main cause in adults, genetic defects account for a large part of cases in infants and children. Even if associated extra-respiratory signs may guide the clinician during diagnostic work-up, next-generation sequencing panels represent an efficient diagnostic tool. Exome sequencing also allowed the discovery of new variants and genes involved in PAP. The aim of this article is to summarise our current knowledge of genetic causes of PAP.
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