期刊
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 143, 期 5, 页码 1661-1673出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2019.03.009
关键词
CBM-opathies; CARD9; CARD11; CARD14; BCL10; MALT1; primary immunodeficiencies; combined immunodeficiency; congenital B-cell lymphocytosis; primary atopic disease
资金
- Canadian Institutes of Health Research (CIHR)
- Genome British Columbia [SIP007]
- Canadian Allergy, Asthma and Immunology Foundation
- British Columbia Children's Hospital Foundation
- AllerGen Emerging Clinician-Scientist Research Fellowship
- University of British Columbia Four Year Doctoral Fellowship
Caspase recruitment domain (CARD) protein-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] complexes are critical signaling adaptors that facilitate immune and inflammatory responses downstream of both cell surface and intracellular receptors. Germline mutations that alter the function of members of this complex (termed CBM-opathies) cause a broad array of clinical phenotypes, ranging from profound combined immunodeficiency to B-cell lymphocytosis. With an increasing number of patients being described in recent years, the clinical spectrum of diseases associated with CBM-opathies is rapidly expanding and becoming unexpectedly heterogeneous. Here we review major discoveries that have shaped our understanding of CBM complex biology, and we provide an overview of the clinical presentation, diagnostic approach, and treatment options for those carrying germline mutations affecting CARD9, CARD11, CARD14, BCL10, and MALT1.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据