Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

Effrosyni D Manali; Marie Legendre; Nadia Nathan; Caroline Kannengiesser; Aurore Coulomb-L'Hermine; Theofanis Tsiligiannis; Pericles Tomos; Matthias Griese; Raphael Borie; Annick Clement; Serge Amselem; Bruno Crestani; Spyros A Papiris

doi:10.1183/23120541.00066-2019

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

ERJ Open Res. 2019 Jul 22;5(3):00066-2019. doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul.

Authors

Effrosyni D Manali^{1

2}, Marie Legendre^{3

2}, Nadia Nathan⁴, Caroline Kannengiesser⁵, Aurore Coulomb-L'Hermine⁶, Theofanis Tsiligiannis⁷, Pericles Tomos⁸, Matthias Griese⁹, Raphael Borie¹⁰, Annick Clement⁴, Serge Amselem³, Bruno Crestani^{5

10

2}, Spyros A Papiris^{1

2}

Affiliations

¹ 2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
² These authors contributed equally.
³ Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France.
⁴ 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.
⁵ Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
⁶ Service d'Anatomie et de Cytologie Pathologiques, Sorbonne Université, Hôpital d'Enfants Armand Trousseau, Paris, France.
⁷ Pediatric Pulmonology, Mitera Pediatric Hospital, Athens Greece.
⁸ Dept of Thoracic Surgery, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
⁹ Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany.
¹⁰ 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.

Abstract

Children with ABCA3 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. http://bit.ly/2LzMNOE.