Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
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DOI：
10.1016/j.smim.2014.09.008
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发表时间：
2014-12
影响因子：
7.8
通讯作者：
Casanova JL
中科院分区：
文献类型：
--
作者：
Bustamante J;Boisson-Dupuis S;Abel L;Casanova JL
分枝杆菌病孟德尔易感性（MSMD）是一种罕见的疾病，其特征是在常规血液学和免疫学检查无明显异常的健康个体中，易患由弱毒分枝杆菌（如卡介苗和环境分枝杆菌）引起的临床疾病。MSMD的名称并不能概括所有的临床特征，因为患者也容易感染沙门氏菌病、念珠菌病和结核病，而更罕见的是感染其他巨噬细菌、真菌或寄生虫，甚至可能感染一些病毒。自1996年以来，已发现9个msmd致病基因，包括7个常染色体基因（IFNGR1、IFNGR2、STAT1、IL12B、IL12RB1、ISG15和IRF8）和2个x连锁基因（NEMO、CYBB）。高水平的等位基因异质性已经导致了18种不同疾病的定义。这9个基因产物在生理上是相关的，因为它们都参与IFN-γ依赖性免疫。这些疾病损害了（IL12B, IL12RB1, IRF8, ISG15， NEMO）的产生或对（IFNGR1, IFNGR2, STAT1, IRF8， CYBB） IFN-γ的反应。这些缺陷只占已知MSMD病例的一半。导致msmd的遗传缺陷的患者可能会表现出其他传染性疾病，甚至没有症状。大多数这些先天错误并没有显示完全的临床外显率为病例定义表型的MSMD。我们在此回顾先天性干扰素γ依赖性免疫错误患者的遗传、免疫学和临床特征。
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are also prone to salmonellosis, candidiasis and tuberculosis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses. Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, CYBB) genes have been discovered. The high level of allelic heterogeneity has already led to the definition of 18 different disorders. The nine gene products are physiologically related, as all are involved in IFN-γ-dependent immunity. These disorders impair the production of (IL12B, IL12RB1, IRF8, ISG15, NEMO) or the response to (IFNGR1, IFNGR2, STAT1, IRF8, CYBB) IFN-γ. These defects account for only about half the known MSMD cases. Patients with MSMD-causing genetic defects may display other infectious diseases, or even remain asymptomatic. Most of these inborn errors do not show complete clinical penetrance for the case-definition phenotype of MSMD. We review here the genetic, immunological, and clinical features of patients with inborn errors of IFN-γ-dependent immunity.
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影响因子：
9.1
作者：
Bax, Hannelore I.;Freeman, Alexandra F.;Holland, Steven M.
通讯作者：
Holland, Steven M.
影响因子：
5.1
作者：
Al Rushood, Maysoun;McCusker, Christine;Ben-Shoshan, Moshe
通讯作者：
Ben-Shoshan, Moshe
影响因子：
3.6
作者：
Averbuch, Diana;Chapgier, Ariane;Engelhard, Dan
通讯作者：
Engelhard, Dan
影响因子：
8
作者：
Auld, Benjamin;Urquhart, Donald;Harris, Margaret-Anne
通讯作者：
Harris, Margaret-Anne
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