Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
复制标题
作者：
CYBB（编码吞噬细胞NADPH氧化酶gp91phox亚基的人类基因）的种系突变损害所有类型吞噬细胞的呼吸爆发并导致x连锁慢性肉芽肿病（CGD）。我们在这里报告了两种健康的成年男性对分枝杆菌病（MSMD）综合征的x连锁隐性孟德尔易感性。这些患者有先前未知的CYBB突变，导致单核细胞来源的巨噬细胞呼吸破裂受损，而单核细胞或粒细胞则没有。生殖系突变的巨噬细胞特异性功能后果是由于NADPH氧化酶组装的细胞特异性损伤。这一“自然实验”表明CYBB与MSMD有关，并表明人巨噬细胞的呼吸破裂是对结核分枝杆菌保护性免疫的关键机制。
Germline mutations in CYBB, the human gene encoding the gp91phox subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This ‘experiment of nature’ indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.
登录
查看更多内容
影响因子：
4.4
作者：
Martinez, Fernando O.;Gordon, Siamon;Mantovani, Alberto
通讯作者：
Mantovani, Alberto
DOI：
10.1016/s0962-8479(97)90004-6
发表时间：
1997-01-01
期刊：
TUBERCLE AND LUNG DISEASE
影响因子：
--
作者：
Adams, LB;Dinauer, MC;Krahenbuhl, JL
通讯作者：
Krahenbuhl, JL
影响因子：
3.6
作者：
Lee, Pamela P. W.;Chan, Koon-Wing;Lau, Yu-Lung
通讯作者：
Lau, Yu-Lung
X连锁对分枝杆菌的敏感性是由NEMO中的突变损害CD40依赖性IL-12产生引起的。
影响因子：
15.3
作者：
Filipe-Santos, Orchidee;Bustamante, Jacinta;Haverkamp, Margje H;Vinolo, Emilie;Ku, Cheng-Lung;Puel, Anne;Frucht, David M;Christel, Karin;von Bernuth, Horst;Jouanguy, Emmanuelle;Feinberg, Jacqueline;Durandy, Anne;Senechal, Brigitte;Chapgier, Ariane;Vogt, Guillaume;de Beaucoudrey, Ludovic;Fieschi, Claire;Picard, Capucine;Garfa, Meriem;Chemli, Jalel;Bejaoui, Mohamed;Tsolia, Maria N;Kutukculer, Necil;Plebani, Alessandro;Notarangelo, Luigi;Bodemer, Christine;Geissmann, Frederic;Israel, Alain;Veron, Michel;Knackstedt, Maike;Barbouche, Ridha;Abel, Laurent;Magdorf, Klaus;Gendrel, Dominique;Agou, Fabrice;Holland, Steven M;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent
影响因子：
158.5
作者：
EZEKOWITZ, RAB;DINAUER, MC;NEWBURGER, PE
通讯作者：
NEWBURGER, PE