Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation-Reference-Cited by-同舟云学术

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Published:2013-10-03 Issue:14 Volume:122 Page:2390-2401
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Moncada-Vélez Marcela¹²,Martinez-Barricarte Rubén¹,Bogunovic Dusan¹,Kong Xiao-Fei¹,Blancas-Galicia Lizbeth³,Tirpan Cengiz⁴,Aksu Guzide⁵,Vincent Quentin B.⁶⁷,Boisson Bertrand¹,Itan Yuval¹,Ramírez-Alejo Noé⁸,Okada Satoshi¹,Kreins Alexandra Y.¹,Bryant Vanessa L.¹,Franco Jose Luis²,Migaud Mélanie⁶⁷,Espinosa-Padilla Sara³,Yamazaki-Nakashimada Marco⁹,Espinosa-Rosales Francisco³,Kutukculer Necil⁵,Abel Laurent¹⁶⁷,Bustamante Jacinta⁶⁷¹⁰,Vogt Guillaume¹⁶⁷,Casanova Jean-Laurent¹⁶⁷,Boisson-Dupuis Stéphanie¹⁶⁷

Affiliation:

1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY;

2. Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, Medellín, Colombia;

3. Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico;

4. Mardin Park Hospital, Mardin, Turkey;

5. Department of Pediatric Immunology, Ege University School of Medicine, Izmir, Turkey;

6. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Paris, France;

7. University Paris Descartes, Sorbornne Paris Cité, Imagine Institute, Paris, France;

8. Department of Molecular Biomedicine, CINVESTAV-IPN, Mexico City, Mexico;

9. Clinical Immunology Service of the National Institute of Pediatrics, Mexico City, Mexico; and

10. Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris, France

Abstract

Key Points Hypomorphic IFNGR2 alleles encode misfolded proteins with abnormal N-glycosylation. Chemical modifiers of N-glycosylation effectively complemented the patients’ response to IFN-γ.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/14/2390/1371093/2390.pdf

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4. IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.;Boisson-Dupuis;PLoS ONE,2011

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