A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

Author:

Oleaga-Quintas Carmen123,Deswarte Caroline12,Moncada-Vélez Marcela4,Metin Ayse5,Krishna Rao Indumathi6,Kanık-Yüksek Saliha5,Nieto-Patlán Alejandro12,Guérin Antoine12,Gülhan Belgin5,Murthy Savita6,Özkaya-Parlakay Aslınur5,Abel Laurent127,Martínez-Barricarte Rubén7,Pérez de Diego Rebeca8,Boisson-Dupuis Stéphanie127,Kong Xiao-Fei7,Casanova Jean-Laurent127910,Bustamante Jacinta12711

Affiliation:

1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France

2. Paris Descartes University, Paris, France

3. Department of Immunology, School of Medicine, Complutense University, Madrid, Spain

4. Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, Medellin, Colombia

5. Infectious Diseases Unit, Ankara Hematology Oncology Children’s Training and Research Hospital, Ankara, Turkey

6. Department of Pediatrics, St John’s Medical College, Bangalore, India

7. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, USA

8. Laboratory of Immunogenetics of Human Diseases IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain

9. Howard Hughes Medical Institute, New York, USA

10. Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France

11. Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France

Funder

National Institute of Allergy and Infectious Diseases

National Center for Research Resources

National Center for Advancing Sciences

National Institutes of Health

Rockefeller University

Institut National de la Santé et de la Recherche Médicale

Paris Descartes University

St. Giles Foundation

French National Research Agency

Laboratoire d'Excellence

Integrative Biology of Emerging Infectious Diseases

GENMSMD

SRC2017

ANR-HGDIFD

ANR-IFNGPHOX

ANR-GENMSMD

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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