LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Affiliations

• ¹ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France. jeremie.rosain@inserm.fr.
• ² Imagine Institute, Paris University, Paris, EU, France. jeremie.rosain@inserm.fr.
• ³ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, EU, France. jeremie.rosain@inserm.fr.
• ⁴ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France.
• ⁵ Imagine Institute, Paris University, Paris, EU, France.
• ⁶ Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
• ⁷ Department of Pediatric Hematology-Oncology, Ondokuz Mayis University, Samsun, Turkey.
• ⁸ Department of Pathology, Ankara University, Ankara, Turkey.
• ⁹ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, EU, France.
• ¹⁰ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
• ¹¹ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.
• ¹² Howard Hughes Medical Institute, New York, NY, USA.
• ¹³ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France. jacinta.bustamante@inserm.fr.
• ¹⁴ Imagine Institute, Paris University, Paris, EU, France. jacinta.bustamante@inserm.fr.
• ¹⁵ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, EU, France. jacinta.bustamante@inserm.fr.
• ¹⁶ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. jacinta.bustamante@inserm.fr.