Human host genetic factors innontuberculous mycobacterial infection:: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-γ-dependent signaling
Human host genetic factors innontuberculous mycobacterial infection:: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-γ-dependent signaling
复制标题
DOI：
10.1016/j.micinf.2005.10.029
复制
发表时间：
2006-04-01
影响因子：
5.8
通讯作者：
Holland, SM
中科院分区：
文献类型：
--
作者：
Haverkamp, MH;van Dissel, JT;Holland, SM
干扰素-γ（IFN-γ）信号转导中的孟德尔缺陷最常导致非结核分枝杆菌感染。已在编码IFN-γ-受体-1、IFN-γ-受体-2和Stat-1的基因中鉴定出突变。发现信号传导的部分和完全缺陷，导致平行的临床、病理和细胞表型。这些罕见的缺陷导致更好地了解IFN-γ在人类免疫系统中的作用的分子和机制。(c)2006年爱思唯尔SAS。All rights reserved.
Mendelian defects in interferon-gamma (IFN-gamma) signaling most commonly lead to infection with nontuberculous mycobacteria. Mutations have been identified in the genes encoding IFN-gamma-receptor-1, IFN-gamma-receptor-2 and Stat-1. Partial and complete deficiencies in signaling are found, leading to parallel clinical, pathological, and cellular phenotypes. These rare defects have led to better molecular and mechanistic understanding of the role of IFN-gamma in the human immune system. (c) 2006 Elsevier SAS. All rights reserved.