A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon-Reference-Cited by-全球学者库

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

Published:2009-10-31 Issue:3 Volume:19 Page:434-444
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Kong Xiao-Fei,Vogt Guillaume,Chapgier Ariane,Lamaze Christophe,Bustamante Jacinta,Prando Carolina,Fortin Anny,Puel Anne,Feinberg Jacqueline,Zhang Xin-Xin,Gonnord Pauline,Pihkala-Saarinen Ulla M.,Arola Mikko,Moilanen Petra,Abel Laurent,Korppi Matti,Boisson-Dupuis Stéphanie,Casanova Jean-Laurent

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/19/3/434/17250423/ddp507.pdf

Reference58 articles.

1. Primary immunodeficiencies: a field in its infancy;Casanova;Science,2007

2. Genetic dissection of immunity to mycobacteria: the human model;Casanova;Annu. Rev. Immunol.,2002

3. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection;Newport;N. Engl. J. Med.,1996

4. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette–Guerin infection;Jouanguy;N. Engl. J. Med.,1996

5. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette–Guerin infection and a sibling with clinical tuberculosis;Jouanguy;J. Clin. Invest.,1997

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ;Journal of Allergy and Clinical Immunology;2022-01

2. Cytokine Receptors;Reference Module in Biomedical Sciences;2021

3. Functional Testing of the IL-12/IFN-γ Circuit;Reference Module in Biomedical Sciences;2021

4. Defects in Intrinsic and Innate Immunity;Cellular Primary Immunodeficiencies;2021

5. The role of interferon-γ in cardiovascular disease: an update;Inflammation Research;2020-07-22