Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
复制标题
儿童时期结核病的遗传性和获得性免疫缺陷。
DOI：
10.1111/imr.12272
复制
发表时间：
2015-03
影响因子：
8.7
通讯作者：
Abel L
中科院分区：
文献类型：
--
作者：
Boisson-Dupuis S;Bustamante J;El-Baghdadi J;Camcioglu Y;Parvaneh N;El Azbaoui S;Agader A;Hassani A;El Hafidi N;Mrani NA;Jouhadi Z;Ailal F;Najib J;Reisli I;Zamani A;Yosunkaya S;Gulle-Girit S;Yildiran A;Cipe FE;Torun SH;Metin A;Atikan BY;Hatipoglu N;Aydogmus C;Kilic SS;Dogu F;Karaca N;Aksu G;Kutukculer N;Keser-Emiroglu M;Somer A;Tanir G;Aytekin C;Adimi P;Mahdaviani SA;Mamishi S;Bousfiha A;Sanal O;Mansouri D;Casanova JL;Abel L
由结核分枝杆菌（M.tb）和一些相关分枝杆菌引起的结核病（TB）是一种毁灭性疾病，每年在全世界造成超过一百万人死亡。然而，其发病机制在很大程度上仍然难以捉摸，因为只有一小部分感染个体在原发感染期间或在潜伏期或继发感染的再激活期间发展为临床疾病。亚急性、血源性和肺外疾病在婴儿、儿童和青少年中比成人更常见。危及生命的儿童原发性结核病可能是由已知的获得性或遗传性免疫缺陷引起的，尽管绝大多数病例仍然无法解释。我们在这里审查的条件赋予易感性的儿童临床疾病引起的分枝杆菌，不仅包括结核分枝杆菌，但也弱毒力分枝杆菌，如卡介苗和环境分枝杆菌。弱毒力分枝杆菌感染比结核病罕见得多，但这些感染背后的遗传性和获得性免疫缺陷更为人们所知。他们的研究还为儿童结核病提供了遗传和免疫学方面的见解，正如发现严重结核病病例中IFN-γ免疫的单基因先天性错误所说明的那样。在伊朗、摩洛哥和土耳其等联合收割机结合了高比例近亲婚姻、高结核病发病率和良好临床护理的国家，正在进行的和未来的儿童结核病人类遗传学研究预计会有新的发现。
Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey.
登录
查看更多内容
影响因子：
8
作者：
Avila, Elizabeth Mannino;Uzel, Gulbu;Holland, Steven M.
通讯作者：
Holland, Steven M.
影响因子：
7.3
作者：
Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Conley ME;Cunningham-Rundles C;Etzioni A;Franco JL;Gaspar HB;Holland SM;Klein C;Nonoyama S;Ochs HD;Oksenhendler E;Picard C;Puck JM;Sullivan K;Tang ML
通讯作者：
Tang ML
影响因子：
3.6
作者：
Averbuch, Diana;Chapgier, Ariane;Engelhard, Dan
通讯作者：
Engelhard, Dan
影响因子：
5.8
作者：
Bellamy, Richard
通讯作者：
Bellamy, Richard
DOI：
10.1126/science.1224026
发表时间：
2012-09-28
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Bogunovic D;Byun M;Durfee LA;Abhyankar A;Sanal O;Mansouri D;Salem S;Radovanovic I;Grant AV;Adimi P;Mansouri N;Okada S;Bryant VL;Kong XF;Kreins A;Velez MM;Boisson B;Khalilzadeh S;Ozcelik U;Darazam IA;Schoggins JW;Rice CM;Al-Muhsen S;Behr M;Vogt G;Puel A;Bustamante J;Gros P;Huibregtse JM;Abel L;Boisson-Dupuis S;Casanova JL
通讯作者：
Casanova JL