The many faces of common variable immunodeficiency
The many faces of common variable immunodeficiency
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DOI：
10.1182/asheducation-2012.1.301
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发表时间：
2012-12-01
期刊：
影响因子：
--
通讯作者：
Cunningham-Rundles, Charlotte
中科院分区：
文献类型：
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作者：
Cunningham-Rundles, Charlotte
常见变异型免疫缺陷（CVID）是一种罕见的免疫缺陷，其特征是血清IgG、伊加和/或IgM水平低，同时缺乏Ab产生。这种诊断最常见于20至40岁的成年人，但儿童和老年人都可以发现这种免疫缺陷。临床表现的范围很广，包括急性和慢性感染，炎症和自身免疫性疾病，以及癌症和淋巴瘤的发病率增加。由于所有这些原因，疾病表型是异质的和复杂的。在过去几年中，来自大型患者登记的数据显示，选定的实验室标志物和临床表型可能有助于将受试者分组为生物学相关类别。CVID由2种表型组成，1种表型以感染为特征，另一种表型也发生显著的炎症和/或血液学并发症，包括淋巴结病、脾肿大、自身免疫性血细胞减少症、肠病和/或肉芽肿性疾病。这些表型似乎是稳定的，与免疫学和炎症标志物相关，并预测结果。这篇综述概述了目前对这种综合征的认识，基于大队列的研究，强调了并发症的评估和治疗，特别是影响这些患者的自身免疫性和炎症性疾病。
Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum IgG, IgA, and/or IgM, with a loss of Ab production. The diagnosis is most commonly made in adults between the ages of 20 and 40 years, but both children and much older adults can be found to have this immune defect. The range of clinical manifestations is broad, including acute and chronic infections, inflammatory and autoimmune diseases, and an increased incidence of cancer and lymphoma. For all of these reasons, the disease phenotype is both heterogeneous and complex. In the past few years, data from large patient registries have revealed that both selected laboratory markers and clinical phenotyping may aid in separating groups of subjects into biologically relevant categories. CVID consists of 2 phenotypes, 1 in which infections are the characteristic and another in which impressive inflammatory and/or hematologic complications also develop, including lymphadenopathy, splenomegaly, autoimmune cytopenias, enteropathy, and/or and granulomatous disease. These phenotypes appear to be stable, are related to immunologic and inflammatory markers, and are predictive of outcomes. This review outlines current understanding about this syndrome based on studies of large cohorts, highlighting the evaluation and treatment of complications and, in particular, the autoimmune and inflammatory conditions that affect these patients.