The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.
The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.
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DOI：
10.3389/fimmu.2018.02078
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发表时间：
2018
影响因子：
7.3
通讯作者：
Turvey SE
中科院分区：
文献类型：
--
作者：
Lu HY;Bauman BM;Arjunaraja S;Dorjbal B;Milner JD;Snow AL;Turvey SE
半胱天冬酶募集结构域家族成员11（CARD 11或CARMA 1）-B细胞CLL/淋巴瘤10（BCL 10）-MALT 1副半胱天冬酶（MALT 1）[CBM]信号体复合物作为细胞表面抗原受体信号传导与NF-κB、JNK和mTORC 1信号传导轴激活之间的分子桥梁。这将CBM复合物定位为淋巴细胞活化、增殖、存活和代谢的关键调节剂。每个CBM成分中的先天性缺陷现在已经与称为“CBM-病”的多种人类原发性免疫缺陷疾病相关联。临床表现从严重的联合免疫缺陷到选择性B细胞淋巴细胞增多症、特应性疾病和特异性体液缺陷。这种令人惊讶的广谱表型强调了“调整”CBM信号传导以保持免疫稳态的重要性。在这里，我们回顾了不同的临床和免疫表型与人类CBM复杂的突变，并介绍了新的途径，有针对性的治疗干预。
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the NF-κB, JNK, and mTORC1 signaling axes. This positions the CBM complex as a critical regulator of lymphocyte activation, proliferation, survival, and metabolism. Inborn errors in each of the CBM components have now been linked to a diverse group of human primary immunodeficiency diseases termed “CBM-opathies.” Clinical manifestations range from severe combined immunodeficiency to selective B cell lymphocytosis, atopic disease, and specific humoral defects. This surprisingly broad spectrum of phenotypes underscores the importance of “tuning” CBM signaling to preserve immune homeostasis. Here, we review the distinct clinical and immunological phenotypes associated with human CBM complex mutations and introduce new avenues for targeted therapeutic intervention.
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DOI：
10.1097/mpg.0000000000001262
发表时间：
2017-03-01
影响因子：
2.9
作者：
Charbit-Henrion, Fabienne;Jeverica, Anja K.;Cerf-Bensussan, Nadine
通讯作者：
Cerf-Bensussan, Nadine
影响因子：
30.5
作者：
Coornaert, Beatrice;Baens, Mathijs;Beyaert, Rudi
通讯作者：
Beyaert, Rudi
影响因子：
14.2
作者：
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通讯作者：
Roifman, Chaim M.
DOI：
10.1038/nri3198
发表时间：
2012-04-20
期刊：
Nature reviews. Immunology
影响因子：
--
作者：
通讯作者：
--
影响因子：
4.8
作者：
Bertin, J;Guo, Y;Alnemri, ES
通讯作者：
Alnemri, ES