Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Identifieur interne : 000943 ( Pmc/Checkpoint ); précédent : 000942; suivant : 000944Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Auteurs : Effrosyni D. Manali [Grèce] ; Marie Legendre [France] ; Nadia Nathan [France] ; Caroline Kannengiesser [France] ; Aurore Coulomb-L'Hermine [France] ; Theofanis Tsiligiannis ; Pericles Tomos [Grèce] ; Matthias Griese [Allemagne] ; Raphael Borie [France] ; Annick Clement [France] ; Serge Amselem [France] ; Bruno Crestani [France] ; Spyros A. Papiris [Grèce]Source :
- ERJ Open Research [ 2312-0541 ] ; 2019.
Abstract
The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in
Url:
DOI: 10.1183/23120541.00066-2019
PubMed: 31360696
PubMed Central: 6646961
Affiliations:
- Allemagne, France, Grèce
- Attique (région), Bavière, District de Haute-Bavière, Île-de-France
- Athènes, Munich, Paris
- Université Louis-et-Maximilien de Munich
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PMC:6646961Le document en format XML
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Manali</name><affiliation wicri:level="3"><nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author><author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><affiliation wicri:level="3"><nlm:aff id="af2">Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand 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Theofanis" sort="Tsiligiannis, Theofanis" uniqKey="Tsiligiannis T" first="Theofanis" last="Tsiligiannis">Theofanis Tsiligiannis</name><affiliation><nlm:aff id="af6">Pediatric Pulmonology, Mitera Pediatric Hospital, Athens Greece</nlm:aff><wicri:noCountry code="subfield">Athens Greece</wicri:noCountry></affiliation></author><author><name sortKey="Tomos, Pericles" sort="Tomos, Pericles" uniqKey="Tomos P" first="Pericles" last="Tomos">Pericles Tomos</name><affiliation wicri:level="3"><nlm:aff id="af7">Dept of Thoracic Surgery, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>Dept of Thoracic Surgery, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><affiliation wicri:level="4"><nlm:aff id="af8">Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name><affiliation wicri:level="3"><nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><affiliation wicri:level="3"><nlm:aff id="af3">Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name><affiliation wicri:level="3"><nlm:aff id="af2">Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name><affiliation wicri:level="3"><nlm:aff id="af4">Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author><author><name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name><affiliation wicri:level="3"><nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31360696</idno><idno type="pmc">6646961</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646961</idno><idno type="RBID">PMC:6646961</idno><idno type="doi">10.1183/23120541.00066-2019</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000337</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000337</idno><idno type="wicri:Area/Pmc/Curation">000337</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000337</idno><idno type="wicri:Area/Pmc/Checkpoint">000943</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000943</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Bi-allelic missense <italic>ABCA3</italic> mutations in a patient with childhood ILD who reached adulthood</title><author><name sortKey="Manali, Effrosyni D" sort="Manali, Effrosyni D" uniqKey="Manali E" first="Effrosyni D." last="Manali">Effrosyni D. Manali</name><affiliation wicri:level="3"><nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author><author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><affiliation wicri:level="3"><nlm:aff id="af2">Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author><author><name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name><affiliation wicri:level="3"><nlm:aff id="af3">Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kannengiesser, Caroline" sort="Kannengiesser, Caroline" uniqKey="Kannengiesser C" first="Caroline" last="Kannengiesser">Caroline Kannengiesser</name><affiliation wicri:level="3"><nlm:aff id="af4">Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Coulomb L Hermine, Aurore" sort="Coulomb L Hermine, Aurore" uniqKey="Coulomb L Hermine A" first="Aurore" last="Coulomb-L'Hermine">Aurore Coulomb-L'Hermine</name><affiliation wicri:level="3"><nlm:aff id="af5">Service d'Anatomie et de Cytologie Pathologiques, Sorbonne Université, Hôpital d'Enfants Armand Trousseau, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service d'Anatomie et de Cytologie Pathologiques, Sorbonne Université, Hôpital d'Enfants Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Tsiligiannis, Theofanis" sort="Tsiligiannis, Theofanis" uniqKey="Tsiligiannis T" first="Theofanis" last="Tsiligiannis">Theofanis Tsiligiannis</name><affiliation><nlm:aff id="af6">Pediatric Pulmonology, Mitera Pediatric Hospital, Athens Greece</nlm:aff><wicri:noCountry code="subfield">Athens Greece</wicri:noCountry></affiliation></author><author><name sortKey="Tomos, Pericles" sort="Tomos, Pericles" uniqKey="Tomos P" first="Pericles" last="Tomos">Pericles Tomos</name><affiliation wicri:level="3"><nlm:aff id="af7">Dept of Thoracic Surgery, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>Dept of Thoracic Surgery, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><affiliation wicri:level="4"><nlm:aff id="af8">Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name><affiliation wicri:level="3"><nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><affiliation wicri:level="3"><nlm:aff id="af3">Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name><affiliation wicri:level="3"><nlm:aff id="af2">Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name><affiliation wicri:level="3"><nlm:aff id="af4">Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author><author><name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name><affiliation wicri:level="3"><nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation><affiliation><nlm:aff id="af10">These authors contributed equally</nlm:aff></affiliation></author></analytic><series><title level="j">ERJ Open Research</title><idno type="eISSN">2312-0541</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in <italic>ABCA3</italic>, located on chromosome 16 [1, 2]. Patients present with a great heterogeneity of phenotypes, from lethal neonatal respiratory distress syndrome (RDS) to childhood and rarely adult interstitial lung disease (ILD) [3, 4]. <italic>ABCA3</italic> mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Dean, M" uniqKey="Dean M">M Dean</name></author><author><name sortKey="Rzhetsky, A" uniqKey="Rzhetsky A">A Rzhetsky</name></author><author><name sortKey="Allikmets, R" uniqKey="Allikmets R">R Allikmets</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beers, Mf" uniqKey="Beers M">MF Beers</name></author><author><name sortKey="Mulugeta, S" uniqKey="Mulugeta S">S Mulugeta</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shulenin, S" uniqKey="Shulenin S">S Shulenin</name></author><author><name sortKey="Nogee, Lm" uniqKey="Nogee L">LM Nogee</name></author><author><name sortKey="Annilo, T" uniqKey="Annilo T">T Annilo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bullard, Je" uniqKey="Bullard J">JE Bullard</name></author><author><name sortKey="Wert, Se" uniqKey="Wert S">SE Wert</name></author><author><name sortKey="Whitsett, Ja" uniqKey="Whitsett J">JA Whitsett</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Flamein, F" uniqKey="Flamein F">F Flamein</name></author><author><name sortKey="Riffault, L" uniqKey="Riffault L">L Riffault</name></author><author><name sortKey="Muselet Charlier, C" uniqKey="Muselet Charlier C">C Muselet-Charlier</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wambach, Ja" uniqKey="Wambach J">JA Wambach</name></author><author><name sortKey="Casey, Am" uniqKey="Casey A">AM Casey</name></author><author><name sortKey="Fishman, Mp" uniqKey="Fishman M">MP Fishman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kroner, C" uniqKey="Kroner C">C Kröner</name></author><author><name sortKey="Wittmann, T" uniqKey="Wittmann T">T Wittmann</name></author><author><name sortKey="Reu, S" uniqKey="Reu S">S Reu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="El Boustany, P" uniqKey="El Boustany P">P El Boustany</name></author><author><name sortKey="Epaud, R" uniqKey="Epaud R">R Epaud</name></author><author><name sortKey="Grosse, C" uniqKey="Grosse C">C Grosse</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nikolaidou, P" uniqKey="Nikolaidou P">P Nikolaidou</name></author><author><name sortKey="Charocopos, E" uniqKey="Charocopos E">E Charocopos</name></author><author><name sortKey="Anagnostopoulos, G" uniqKey="Anagnostopoulos G">G 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Delestrain</name></author><author><name sortKey="Louha, M" uniqKey="Louha M">M Louha</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Richards, S" uniqKey="Richards S">S Richards</name></author><author><name sortKey="Aziz, N" uniqKey="Aziz N">N Aziz</name></author><author><name sortKey="Bale, S" uniqKey="Bale S">S Bale</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Somaschini, M" uniqKey="Somaschini M">M Somaschini</name></author><author><name sortKey="Nogee, Lm" uniqKey="Nogee L">LM Nogee</name></author><author><name sortKey="Sassi, I" uniqKey="Sassi I">I Sassi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schindlbeck, U" uniqKey="Schindlbeck U">U Schindlbeck</name></author><author><name sortKey="Wittmann, T" uniqKey="Wittmann T">T Wittmann</name></author><author><name sortKey="Hoppner, S" uniqKey="Hoppner S">S 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<front><journal-meta><journal-id journal-id-type="nlm-ta">ERJ Open Res</journal-id><journal-id journal-id-type="iso-abbrev">ERJ Open Res</journal-id><journal-id journal-id-type="publisher-id">ERJOR</journal-id><journal-id journal-id-type="hwp">erjor</journal-id><journal-title-group><journal-title>ERJ Open Research</journal-title></journal-title-group><issn pub-type="epub">2312-0541</issn><publisher><publisher-name>European Respiratory Society</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">31360696</article-id><article-id pub-id-type="pmc">6646961</article-id><article-id pub-id-type="doi">10.1183/23120541.00066-2019</article-id><article-id pub-id-type="publisher-id">00066-2019</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Research Letter</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>9</subject><subject>13</subject><subject>16</subject></subj-group></article-categories><title-group><article-title>Bi-allelic missense <italic>ABCA3</italic> mutations in a patient with childhood ILD who reached adulthood</article-title><alt-title alt-title-type="short">Bi-allelic missense ABCA3 mutations in an adult with child-ILD</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Manali</surname><given-names>Effrosyni D.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af10">10</xref><xref ref-type="corresp" rid="cor1"></xref></contrib><contrib contrib-type="author"><name><surname>Legendre</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Nathan</surname><given-names>Nadia</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="false">https://orcid.org/0000-0003-2155-9383</contrib-id><name><surname>Kannengiesser</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="false">https://orcid.org/0000-0002-0945-7379</contrib-id><name><surname>Coulomb-L'Hermine</surname><given-names>Aurore</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Tsiligiannis</surname><given-names>Theofanis</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Tomos</surname><given-names>Pericles</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Griese</surname><given-names>Matthias</given-names></name><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="false">https://orcid.org/0000-0002-9906-0024</contrib-id><name><surname>Borie</surname><given-names>Raphael</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Clement</surname><given-names>Annick</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Amselem</surname><given-names>Serge</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Crestani</surname><given-names>Bruno</given-names></name><xref ref-type="aff" rid="af4">4</xref><xref ref-type="aff" rid="af9">9</xref><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Papiris</surname><given-names>Spyros A.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af10">10</xref></contrib></contrib-group><aff id="af1"><label>1</label>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</aff><aff id="af2"><label>2</label>Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France</aff><aff id="af3"><label>3</label>Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France</aff><aff id="af4"><label>4</label>Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France</aff><aff id="af5"><label>5</label>Service d'Anatomie et de Cytologie Pathologiques, Sorbonne Université, Hôpital d'Enfants Armand Trousseau, Paris, France</aff><aff id="af6"><label>6</label>Pediatric Pulmonology, Mitera Pediatric Hospital, Athens Greece</aff><aff id="af7"><label>7</label>Dept of Thoracic Surgery, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</aff><aff id="af8"><label>8</label>Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany</aff><aff id="af9"><label>9</label>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</aff><aff id="af10"><label>10</label>These authors contributed equally</aff><author-notes><corresp id="cor1">Effrosyni D. Manali, 2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, 1 Rimini Street, 12462 Haidari, Athens, Greece. E-mail: <email>fmanali@otenet.gr</email></corresp></author-notes><pub-date pub-type="collection"><month>7</month><year>2019</year></pub-date><pub-date pub-type="epub"><day>22</day><month>7</month><year>2019</year></pub-date><volume>5</volume><issue>3</issue><elocation-id>00066-2019</elocation-id><history><date date-type="received"><day>13</day><month>5</month><year>2019</year></date><date date-type="accepted"><day>03</day><month>6</month><year>2019</year></date></history><permissions><copyright-statement>Copyright ©ERS 2019</copyright-statement><copyright-year>2019</copyright-year><license license-type="open-access"><ali:license_ref specific-use="vor">http://creativecommons.org/licenses/by-nc/4.0/</ali:license_ref><license-p>This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.</license-p></license></permissions><abstract abstract-type="extract"><p>The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in <italic>ABCA3</italic>, located on chromosome 16 [1, 2]. Patients present with a great heterogeneity of phenotypes, from lethal neonatal respiratory distress syndrome (RDS) to childhood and rarely adult interstitial lung disease (ILD) [3, 4]. <italic>ABCA3</italic> mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.</p></abstract><abstract abstract-type="short"><p><bold>Children with <italic>ABCA3</italic> mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres.</bold><ext-link ext-link-type="uri" xlink:href="http://bit.ly/2LzMNOE">http://bit.ly/2LzMNOE</ext-link></p></abstract><funding-group><award-group id="funding-1"><funding-source>INSERM</funding-source></award-group><award-group id="funding-2"><funding-source>Respirer c’est Grandir</funding-source></award-group><award-group id="funding-3"><funding-source>Bundesministerium für Bildung und Forschung (BMBF), Germany, project “HCQ4Surfdefect”</funding-source></award-group><award-group id="funding-4"><funding-source>the Legs Poix</funding-source><award-id>grants 2013 n°1305, 2014 n°1405, 2015 n°1015, 2</award-id></award-group><award-group id="funding-5"><funding-source>Belleherbe Association</funding-source></award-group><award-group id="funding-6"><funding-source>the European Union’s Seventh Framework Program (FP7-ChILD-EU 2007-2013)</funding-source><award-id>grant agreement n°305653</award-id></award-group></funding-group></article-meta></front></pmc><affiliations><list><country><li>Allemagne</li><li>France</li><li>Grèce</li></country><region><li>Attique (région)</li><li>Bavière</li><li>District de Haute-Bavière</li><li>Île-de-France</li></region><settlement><li>Athènes</li><li>Munich</li><li>Paris</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><noCountry><name sortKey="Tsiligiannis, Theofanis" sort="Tsiligiannis, Theofanis" uniqKey="Tsiligiannis T" first="Theofanis" last="Tsiligiannis">Theofanis Tsiligiannis</name></noCountry><country name="Grèce"><region name="Attique (région)"><name sortKey="Manali, Effrosyni D" sort="Manali, Effrosyni D" uniqKey="Manali E" first="Effrosyni D." last="Manali">Effrosyni D. Manali</name></region><name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name><name sortKey="Tomos, Pericles" sort="Tomos, Pericles" uniqKey="Tomos P" first="Pericles" last="Tomos">Pericles Tomos</name></country><country name="France"><region name="Île-de-France"><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name></region><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name><name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><name sortKey="Coulomb L Hermine, Aurore" sort="Coulomb L Hermine, Aurore" uniqKey="Coulomb L Hermine A" first="Aurore" last="Coulomb-L'Hermine">Aurore Coulomb-L'Hermine</name><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name><name sortKey="Kannengiesser, Caroline" sort="Kannengiesser, Caroline" uniqKey="Kannengiesser C" first="Caroline" last="Kannengiesser">Caroline Kannengiesser</name><name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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