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

Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357.

Carmen Oleaga-Quintas^{1

2

3}, Caroline Deswarte^{1

2}, Marcela Moncada-Vélez⁴, Ayse Metin⁵, Indumathi Krishna Rao⁶, Saliha Kanik-Yüksek⁵, Alejandro Nieto-Patlán^{1

2}, Antoine Guérin^{1

2}, Belgin Gülhan⁵, Savita Murthy⁶, Aslinur Özkaya-Parlakay⁵, Laurent Abel^{1

2

7}, Rubén Martínez-Barricarte⁷, Rebeca Pérez de Diego⁸, Stéphanie Boisson-Dupuis^{1

2

7}, Xiao-Fei Kong⁷, Jean-Laurent Casanova^{1

2

7

9

10}, Jacinta Bustamante^{1

2

7

11}

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.

No abstract available

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