Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

• Fabienne Charbit-Henrion,

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Project administration, Writing – original draft, Writing – review & editing

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, Department of Paediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France, GENIUS group, Paris, France

  http://orcid.org/0000-0003-4615-3953

  ⨯
• Bernadette Bègue,

  Roles Investigation, Methodology

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, GENIUS group, Paris, France

  ⨯
• Anaïs Sierra,

  Roles Data curation

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, GENIUS group, Paris, France

  ⨯
• Sylvain Hanein,

  Roles Formal analysis, Methodology, Software, Writing – original draft, Writing – review & editing

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, INSERM UMR1163 and Institut Imagine, Translational Genetic, Paris, France

  ⨯
• Marie-Claude Stolzenberg,

  Roles Data curation, Formal analysis

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, INSERM UMR1163 and Institut Imagine, Immunogenetics of Paediatric Autoimmunity, Paris, France

  ⨯
• Zhi Li,

  Roles Data curation, Methodology

  Affiliation Cytokine Signaling Unit, Institut Pasteur, INSERM 1221, Paris, France

  ⨯
• Sandra Pellegrini,

  Roles Methodology, Supervision, Writing – review & editing

  Affiliation Cytokine Signaling Unit, Institut Pasteur, INSERM 1221, Paris, France

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• Nicolas Garcelon,

  Roles Software

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Institut Imagine, Paris France

  http://orcid.org/0000-0002-3326-2811

  ⨯
• Marc Jeanpierre,

  Roles Methodology

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, Genetic Unit, Cochin Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France

  ⨯
• Bénédicte Neven,

  Roles Data curation

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, INSERM UMR1163 and Institut Imagine, Immunogenetics of Paediatric Autoimmunity, Paris, France, Paediatric Haematology-Immunology and Rheumatology Unit, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France

  ⨯
• Isabelle Loge,

  Roles Data curation

  Affiliation Department of Paediatrics, Hôpital Charles-Nicolle, CHU Rouen, Rouen, France

  ⨯
• Capucine Picard,

  Roles Investigation, Methodology

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, Study Centre for Primary Immunodeficiency, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France

  ⨯
• Jérémie Rosain,

  Roles Formal analysis

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, Study Centre for Primary Immunodeficiency, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163 and Institut Imagine, Necker Hospital for Sick Children, Paris, France

  ⨯
• Jacinta Bustamante,

  Roles Formal analysis

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, Study Centre for Primary Immunodeficiency, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163 and Institut Imagine, Necker Hospital for Sick Children, Paris, France, St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, United States of America

  ⨯
• Marc Le Lorc’h,

  Roles Methodology

  Affiliation Histology, Embryology and Cytogenetics Unit, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France

  ⨯
• Bénédicte Pigneur,

  Roles Data curation, Investigation

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, Department of Paediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France, GENIUS group, Paris, France

  http://orcid.org/0000-0002-5324-9964

  ⨯
• Alicia Fernandes,

  Roles Data curation

  Affiliation Centre of Biological Resources, Structure Fédérative de Recherche Necker, INSERM US24, CNRS UMS3633, Assistance Publique des Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris, France

  ⨯
• GENIUS Group ,

  ¶Complete membership of the author group can be found in Acknowledgments.

  Affiliation GENIUS group, Paris, France

  ⨯
• Frédéric Rieux-Laucat,

  Roles Conceptualization, Data curation, Formal analysis

  Affiliations Paris Descartes University-Sorbonne Paris Cité, Paris, France, INSERM UMR1163 and Institut Imagine, Immunogenetics of Paediatric Autoimmunity, Paris, France

  ⨯
• Jorge Amil Dias,

  Roles Data curation, Investigation

  Affiliations GENIUS group, Paris, France, Department of Paediatrics, Centro Hospitalar S. João, Porto, Portugal

  ⨯
• Frank M. Ruemmele ,

  Roles Conceptualization, Supervision, Writing – review & editing

  ¶‡ These authors share senior authorship on this work.

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, Department of Paediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France, GENIUS group, Paris, France

  ⨯
•  [ ... ],
• Nadine Cerf-Bensussan

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – review & editing

  * E-mail: nadine.cerf-bensussan@inserm.fr

  ¶‡ These authors share senior authorship on this work.

  Affiliations INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France, Paris Descartes University-Sorbonne Paris Cité, Paris, France, GENIUS group, Paris, France

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