A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Address: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.; Pediatric Infectious Diseases, Thriasio Hospital, Athens, Greece.; Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.; The Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.; Second Department of Pediatrics, P. and A. Kyriakou Children's Hospital, National and Kapodistrian University of Athens (NKUA), Athens, Greece.; Department of Pediatric Infectious Diseases and Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Department of Internal Medicine, Division of Infectious Disease and Clinical Immunology, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Clinical Tuberculosis and Epidemiology Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran (INCMNSZ), Mexico City, Mexico.; Department of Clinical Immunology, National Institute of Pediatrics, Mexico City, Mexico.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; Free University of Brussels, Brussels, Belgium.; Department of Microbiology Research, National Institute of Respiratory Diseases (INER), Mexico City, Mexico.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Imagine Institute, Paris Descartes University, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.; Bioinformatics Core Facility, Imagine Institute, SFR-Necker, INSERM UMR1163 and INSERM US24/CNRS UMS3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Genomic Core Facility, INSERM UMR1163, SFR-Necker, Imagine Institute, Paris, France.; INSERM US24/CNRS UMS3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France. [email protected].; Imagine Institute, Paris Descartes University, Paris, France. [email protected].; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France. [email protected].; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. [email protected].