Clinical picture and treatment of 2212 patients with common variable immunodeficiency
Clinical picture and treatment of 2212 patients with common variable immunodeficiency
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DOI：
10.1016/j.jaci.2013.12.1077
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发表时间：
2014-07-01
影响因子：
14.2
通讯作者：
Grimbacher, Bodo
中科院分区：
文献类型：
--
作者：
Gathmann, Benjamin;Mahlaoui, Nizar;Grimbacher, Bodo
背景：常见变异性免疫缺陷（CVID）是一种性别分布均匀、临床表现具有高度可变性的抗体缺陷。主要特征包括呼吸道感染及其相关并发症、肠病、自身免疫和淋巴细胞增生性疾病。目的：分析欧洲的临床表现、临床特征之间的关系以及免疫球蛋白治疗的差异和效果。方法：回顾性分析欧洲免疫缺陷学会数据库中28个医疗中心的2212例CVID患者的数据。结果：早期发病（< 10年）在我们的队列中非常常见（33.7%），尤其是男性受试者（39.8%）。早发性CVID的男性受试者更容易发生肺炎，而不容易发生其他并发症，这表明疾病实体不同。在许多国家，CVID的诊断延迟在4至5年之间，早发性CVID患者的诊断延迟尤其高。肠病、自身免疫、肉芽肿和脾肿大形成了一组相互关联的特征，而支气管扩张与任何其他临床特征无关。该队列中的患者生存率仅与发病年龄和诊断年龄相关。在欧洲有不同的治疗策略，免疫球蛋白的剂量有相当大的差异，从130到750毫克/公斤/月不等。低于4 g/L的极低低谷水平的患者临床结果较差，而较高的低谷水平与严重细菌感染的频率降低相关。结论：在欧洲，CVID患者的治疗方法不同，影响了各种结果测量。临床上，CVID是一种真正的可变抗体缺乏综合征。
Background: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders. Objective: This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe. Methods: Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively. Results: Early disease onset (< 10 years) was very frequent in our cohort (33.7%), especially in male subjects (39.8%). Male subjects with early-onset CVID were more prone to pneumonia and less prone to other complications suggesting a distinct disease entity. The diagnostic delay of CVID ranges between 4 and 5 years in many countries and is particularly high in subjects with early-onset CVID. Enteropathy, autoimmunity, granulomas, and splenomegaly formed a set of interrelated features, whereas bronchiectasis was not associated with any other clinical feature. Patient survival in this cohort was associated with age at onset and age at diagnosis only. There were different treatment strategies in Europe, with considerable differences in immunoglobulin dosing, ranging from 130 up to 750 mg/kg/mo. Patients with very low trough levels of less than 4 g/L had poor clinical outcomes, whereas higher trough levels were associated with a reduced frequency of serious bacterial infections. Conclusion: Patients with CVID are being managed differently throughout Europe, affecting various outcome measures. Clinically, CVID is a truly variable antibody deficiency syndrome.