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J Clin Immunol. 2019 Aug 3. doi: 10.1007/s10875-019-00667-8. [Epub ahead of print]

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

Author information

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.
PMID:
31377971
DOI:
10.1007/s10875-019-00667-8

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