Department of Medicine, Mount Sinai School of Medicine, Mount Sinai Medical Center, 1425 Madison Ave, New York, NY 10029, USA.
Blood. 2010 Jul 8;116(1):7-15. doi: 10.1182/blood-2010-01-254417. Epub 2010 Mar 23.
Common variable immunodeficiency is a rare immune deficiency, characterized by low levels of serum immunoglobulin G, A, and/or M with loss of antibody production. The diagnosis is most commonly made in adults between the ages of 20 and 40 years, but both children and 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 disease, and an increased incidence of cancer and lymphoma. For all these reasons, the disease phenotype is both heterogeneous and complex. Contributing to the complexity is that patient cohorts are generally small, criteria used for diagnosis vary, and the doses of replacement immune globulin differ. In addition, routines for monitoring patients over the years and protocols for the use of other biologic agents for complications have not been clarified or standardized. In the past few years, data from large patient registries have revealed that both selected laboratory markers and clinical phenotyping may aid in dissecting groups of subjects into biologically relevant categories. This review presents my approach to the diagnosis and treatment of patients with common variable immunodeficiency, with suggestions for the use of laboratory biomarkers and means of monitoring patients.
普通变异性免疫缺陷是一种罕见的免疫缺陷,其特征是血清免疫球蛋白 G、A 和/或 M 水平降低,抗体生成丧失。该诊断最常见于 20 至 40 岁的成年人,但也可在儿童和老年人中发现这种免疫缺陷。临床表现范围广泛,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,疾病表型既有异质性又复杂。导致这种复杂性的原因是患者队列通常较小,用于诊断的标准不同,以及替代免疫球蛋白的剂量也不同。此外,多年来监测患者的常规和用于并发症的其他生物制剂的使用方案尚未得到明确或标准化。在过去几年中,来自大型患者登记处的数据表明,选定的实验室标志物和临床表型都可能有助于将受试者群体划分为具有生物学相关性的类别。这篇综述介绍了我对普通变异性免疫缺陷患者的诊断和治疗方法,包括对实验室生物标志物的使用建议和监测患者的方法。