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A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon, Romane; Chentout, Loïc; Moreno-Corona, Nidia; Poggi, Lucie; Lombardi, Emilia Puig; Hoareau, Benedicte; Schmitt, Yohann; Lagresle-Peyrou, Chantal; Bustamante, Jacinta; André, Isabelle; Cavazzana, Marina; Durandy, Anne; Casanova, Jean-Laurent; Galicier, Lionel; Fadlallah, Jehane; Fischer, Alain; Kracker, Sven.
Afiliação
  • Thouenon R; Université Paris Cité , Paris, France.
  • Chentout L; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • Moreno-Corona N; Université Paris Cité , Paris, France.
  • Poggi L; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • Lombardi EP; Université Paris Cité , Paris, France.
  • Hoareau B; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • Schmitt Y; Université Paris Cité , Paris, France.
  • Lagresle-Peyrou C; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • Bustamante J; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • André I; Sorbonne Université , UMS037, PASS, Plateforme de Cytométrie de la Pitié-Salpêtrière , Paris, France.
  • Cavazzana M; Plateforme de génomique, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Université de Paris , Paris, France.
  • Durandy A; Université Paris Cité , Paris, France.
  • Casanova JL; Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163 , Paris, France.
  • Galicier L; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris, INSERM , Paris, France.
  • Fadlallah J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.
  • Fischer A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children , Paris, France.
  • Kracker S; Paris Hospital, Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris , Paris, France.
J Exp Med ; 220(6)2023 06 05.
Article em En | MEDLINE | ID: mdl-36917008

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linfócitos B / Fatores Reguladores de Interferon Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linfócitos B / Fatores Reguladores de Interferon Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França