期刊
JOURNAL OF INFECTIOUS DISEASES
卷 181, 期 1, 页码 379-384出版社
OXFORD UNIV PRESS INC
DOI: 10.1086/315197
关键词
-
资金
- NATIONAL CANCER INSTITUTE [R01CA046465] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [R01AI036450] Funding Source: NIH RePORTER
- NCI NIH HHS [CA-46465] Funding Source: Medline
- NIAID NIH HHS [R01-AI36450] Funding Source: Medline
Complete deficiency of either of the two human interferon (IFN)-gamma receptor components, the ligand-binding IFN-gamma R1 chain and the signaling IFN-gamma R2 chain, is invariably associated with early-onset infection caused by bacille Calmeete-Guerin vaccines and/or environmental nontuberculous mycobacteria, poor granuloma formation, and a fatal outcome in childhood, Partial IFN-gamma R1 deficiency is associated with a milder histopathologic and clinical phenotype, Cells from a 20-year-old healthy person with a history of curable infections due to bacille Calmette-Guerin and Mycobacterium abscessus and mature granulomas in childhood were investigated, There was a homozygous nucleotide substitution in IFNGR2, causing an amino acid substitution in the extracellular region of the encoded receptor, Cell surface IFN-gamma R2 were detected by flow cytometry, Cellular responses to IFN-gamma were impaired but not abolished, Transfection with the wild-type IFNGR2 gene restored full responsiveness to IFN-gamma, This is the first demonstration of partial IFN-gamma R2 deficiency in humans.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据