The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
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DOI：
10.1016/j.jaci.2014.06.015
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发表时间：
2014-08
影响因子：
14.2
通讯作者：
Warnatz, Klaus
中科院分区：
文献类型：
--
作者：
Turvey, Stuart E.;Durandy, Anne;Fischer, Alain;Fung, Shan-Yu;Geha, Raif S.;Gewies, Andreas;Giese, Thomas;Greil, Johann;Keller, Baerbel;McKinnon, Margaret L.;Neven, Benedicte;Rozmus, Jacob;Ruland, Juegen;Snow, Andrew L.;Stepensky, Polina;Warnatz, Klaus
关键词：
下一代DNA测序加速了许多人类原发性免疫缺陷病（PID）的遗传特征。这些发现可以挽救受影响患者的生命，也为研究特定基因对人类免疫功能的影响提供了独特的机会。在过去的18个月里，一些独立的研究小组已经开始定义由CARD 11-BCL 10-MALT 1（CBM）信号酶体复合物缺陷引起的新型PID。CBM复合物在细胞表面抗原受体的触发和NF-κB活化之间形成了重要的分子联系。影响CBM复合物的种系突变现在被认为是新型联合免疫缺陷表型的原因，这些表型都具有异常NF-κB活化和失调的B细胞发育作为定义特征。对于这一当前观点，我们聘请了基础生物学和临床免疫学专家，以获取识别和管理CBM复杂突变引起的PID患者的全球经验。
Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be lifesaving for the affected patients, and also provide the unique opportunity to study the impact of specific genes on human immune function. In the past 18 months, a number of independent groups have begun to define novel PIDs caused by defects in the CARD11–BCL10–MALT1 (CBM) signalasome complex. The CBM complex forms an essential molecular link between the triggering of cell surface antigen receptors and NF-κB activation. Germline mutations affecting the CBM complex are now recognized as the cause of novel combined immunodeficiency phenotypes which all share abnormal NF-κB activation and dysregulated B cell development as defining features. For this Current Perspectives we have engaged experts in both basic biology and clinical immunology to capture the worldwide experience in recognizing and managing patients with PIDs caused by CBM complex mutations.
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