Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease

• Yohan David Soreze ,

  Roles Conceptualization, Formal analysis, Writing – original draft

  * E-mail: yohan.soreze@aphp.fr

  Affiliations INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France, Assistance Publique Hôpitaux de Paris, Intensive care unit, Armand Trousseau Hospital, Paris, France

  https://orcid.org/0000-0001-7803-5113

  ⨯
• Tifenn Desroziers-Louedec,

  Roles Methodology, Writing – review & editing

  Affiliation INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France

  https://orcid.org/0000-0001-7071-5173

  ⨯
• Aurore Carré,

  Roles Validation, Writing – review & editing

  Affiliation Cochin Institute, INSERM U1016 and Imagine Institute Affiliate, Paris, France

  ⨯
• Farah Diab,

  Roles Methodology, Supervision, Validation, Writing – review & editing

  Affiliation INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France

  ⨯
• Aphrodite Daskalopoulou,

  Roles Methodology, Supervision, Validation, Writing – review & editing

  Affiliation INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France

  ⨯
• Julie Starck,

  Roles Writing – review & editing

  Affiliation Assistance Publique Hôpitaux de Paris, Intensive care unit, Armand Trousseau Hospital, Paris, France

  ⨯
• Valérie Nau,

  Roles Methodology

  Affiliation Assistance Publique Hôpitaux de Paris, Medical Genetics Department, Armand Trousseau Hospital, Paris, France

  ⨯
• Marie Legendre,

  Roles Supervision, Validation, Writing – review & editing

  Affiliations INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France, Assistance Publique Hôpitaux de Paris, Medical Genetics Department, Armand Trousseau Hospital, Paris, France

  ⨯
• Sonia-Athina Karabina,

  Roles Supervision, Validation, Writing – review & editing

  Affiliation INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France

  ⨯
• Véronique Houdouin,

  Roles Supervision, Validation

  Affiliation Assistance Publique Hôpitaux de Paris, Pediatric Pulmonology department, Robert Debré Hospital, Paris, France

  ⨯
• Aurore Coulomb-L’herminé,

  Roles Data curation, Writing – review & editing

  Affiliation Assistance Publique Hôpitaux de Paris, Pathology Department, Sorbonne University APHP, Armand Trousseau Hospital, Paris, France

  ⨯
• Camille Louvrier ,

  Contributed equally to this work with: Camille Louvrier, Nadia Nathan

  Roles Methodology, Supervision, Validation, Writing – review & editing

  Affiliations INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France, Assistance Publique Hôpitaux de Paris, Medical Genetics Department, Armand Trousseau Hospital, Paris, France

  ⨯
• Nadia Nathan

  Contributed equally to this work with: Camille Louvrier, Nadia Nathan

  Roles Project administration, Supervision, Validation, Writing – review & editing

  Affiliations INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France, Assistance Publique Hôpitaux de Paris, Pediatric Pulmonology department, Reference center for rare lung diseases (RespiRare), Armand Trousseau Hospital, Paris, France

  https://orcid.org/0000-0001-5149-7975

  ⨯