Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Autor: Anne Sophie Rebillat, Marie Goulet, Darawan Rinchai, Tanwir Habib, Vincent Bondet, Martine Conte, Anne Puel, Clotilde Mircher, Xiao-Fei Kong, Luyan Liu, Puthen V. Jithesh, Arnold Munnich, Laurent Abel, Damien Chaussabel, Stanislas Lyonnet, Jean-Laurent Casanova, Mohammed Elanbari, Emilie Nonnotte, Jacinta Bustamante, Mélanie Migaud, Nicolas Gürtler, Lisa Worley, Stuart G. Tangye, Aimé Ravel, Cindy S. Ma, Darragh Duffy, Stéphanie Boisson-Dupuis

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩
J Clin Immunol
Journal of Clinical Immunology, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩

International audience; Down syndrome (DS) is characterized by the occurrence of three copies of human chromosome 21 (HSA21). HSA21 contains a cluster of four interferon receptor (IFN-R) genes: IFNAR1, IFNAR2, IFNGR2, and IL10RB. DS patients often de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a228b766736d4fb59300e54e7673915
https://doi.org/10.1007/s10875-020-00803-9