A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Carmen Oleaga-Quintas, Caroline Deswarte, Marcela Moncada-Vélez, Ayse Metin, Indumathi Krishna Rao, Saliha Kanik-Yüksek, Alejandro Nieto-Patlán, Antoine Guérin, Belgin Gülhan, Savita Murthy, Aslinur Özkaya-Parlakay, Laurent Abel, Rubén Martínez-Barricarte, Rebeca Pérez de Diego, Stéphanie Boisson-Dupuis, Xiao-Fei Kong, Jean-Laurent Casanova, Jacinta Bustamante
Author Information
- Carmen Oleaga-Quintas: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Caroline Deswarte: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Marcela Moncada-Vélez: Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, Medellin, Colombia.
- Ayse Metin: Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
- Indumathi Krishna Rao: Department of Pediatrics, St John's Medical College, Bangalore, India.
- Saliha Kanik-Yüksek: Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
- Alejandro Nieto-Patlán: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Antoine Guérin: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Belgin Gülhan: Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
- Savita Murthy: Department of Pediatrics, St John's Medical College, Bangalore, India.
- Aslinur Özkaya-Parlakay: Infectious Diseases Unit, Ankara Hematology Oncology Children's Training and Research Hospital, Ankara, Turkey.
- Laurent Abel: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Rubén Martínez-Barricarte: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, USA.
- Rebeca Pérez de Diego: Laboratory of Immunogenetics of Human Diseases IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
- Stéphanie Boisson-Dupuis: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Xiao-Fei Kong: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, USA.
- Jean-Laurent Casanova: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
- Jacinta Bustamante: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
No abstract text available.
- R37 AI095983/NIAID NIH HHS
