Alveolar proteinosis of genetic origins
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2020-10-01
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| Series: | European Respiratory Review |
| Online Access: | http://err.ersjournals.com/content/29/158/190187.full |
| _version_ | 1818729862772293632 |
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| author | Alice Hadchouel David Drummond Rola Abou Taam Muriel Lebourgeois Christophe Delacourt Jacques de Blic |
| author_facet | Alice Hadchouel David Drummond Rola Abou Taam Muriel Lebourgeois Christophe Delacourt Jacques de Blic |
| author_sort | Alice Hadchouel |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T22:52:38Z |
| format | Article |
| id | doaj.art-6fdd856ad486400981fd9709700ebfb3 |
| institution | Directory Open Access Journal |
| issn | 0905-9180 1600-0617 |
| language | English |
| last_indexed | 2024-12-17T22:52:38Z |
| publishDate | 2020-10-01 |
| publisher | European Respiratory Society |
| record_format | Article |
| series | European Respiratory Review |
| spelling | doaj.art-6fdd856ad486400981fd9709700ebfb32022-12-21T21:29:38ZengEuropean Respiratory SocietyEuropean Respiratory Review0905-91801600-06172020-10-012915810.1183/16000617.0187-20190187-2019Alveolar proteinosis of genetic originsAlice Hadchouel0David Drummond1Rola Abou Taam2Muriel Lebourgeois3Christophe Delacourt4Jacques de Blic5 AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France 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.http://err.ersjournals.com/content/29/158/190187.full |
| spellingShingle | Alice Hadchouel David Drummond Rola Abou Taam Muriel Lebourgeois Christophe Delacourt Jacques de Blic Alveolar proteinosis of genetic origins European Respiratory Review |
| title | Alveolar proteinosis of genetic origins |
| title_full | Alveolar proteinosis of genetic origins |
| title_fullStr | Alveolar proteinosis of genetic origins |
| title_full_unstemmed | Alveolar proteinosis of genetic origins |
| title_short | Alveolar proteinosis of genetic origins |
| title_sort | alveolar proteinosis of genetic origins |
| url | http://err.ersjournals.com/content/29/158/190187.full |
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