Specialist of Pediatric Allergy and Immunology, Division of Pediatric Allergy, Immunology and Infectious Diseases, Department of Pediatrics, Istanbul University Cerrahpaşa Faculty of Medicine, Istanbul, Turkey.
Specialist of Pediatric Infectious Disease, Division of Pediatric Allergy, Immunology and Infectious Diseases, Department of Pediatrics, Istanbul University Cerrahpaşa Faculty of Medicine, Istanbul, Turkey.
Allergol Immunopathol (Madr). 2020 Nov-Dec;48(6):675-685. doi: 10.1016/j.aller.2019.12.008. Epub 2020 Apr 13.
Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. Its heterogeneous clinical features include recurrent respiratory tract infections and other complications such as gastrointestinal, autoimmunity, and lymphoproliferative disorders. The aim of this article is to evaluate the general characteristics of CVID patients.
Clinical and immunological features of 44 CVID patients were evaluated retrospectively with long-term follow-up. Patients who participated in the study were diagnosed according to the criteria of the European Society for Immunodeficiency Diseases (ESID).
The median age at onset of symptoms was 2.75 years (range 6 months to 17 years), and the median age at diagnosis was 7.75 years (range 4-20 years). The average delay in diagnosis was 4.6 years (range 1-14 years). Positive family history was 18.2%. Before treatment, patients' median total serum IgG was 271.5mg/dL, median IgA was 7.5mg/dL, and median IgM was 21mg/dL. Infections were the most common clinical manifestation, and 63.6% of patients presented with sinopulmonary infection as the first manifestation. Bronchiectasis developed in 23 CVID subjects, while bronchiectasis was detected prior to CVID diagnosis in eight patients. All patients received immunoglobulin replacement therapy, and one patient died because of granulomatous lymphocytic interstitial lung disease (GLILD).
CVID is a heterogeneous group of immunologic disorders with unknown etiology. There are significant differences in the clinical presentation and prevalence of CVID-related complications among countries. Local guidelines for diagnosis and clinical follow-up are needed.
普通变异性免疫缺陷（CVID）是最常见的原发性免疫缺陷之一，其特征是低丙种球蛋白血症。其异质性临床特征包括复发性呼吸道感染和其他并发症，如胃肠道、自身免疫和淋巴增生性疾病。本文旨在评估 CVID 患者的一般特征。
对 44 例 CVID 患者的临床和免疫学特征进行回顾性评估，并进行长期随访。参与研究的患者根据欧洲免疫缺陷学会（ESID）的标准进行诊断。
症状发作的中位年龄为 2.75 岁（范围为 6 个月至 17 岁），诊断的中位年龄为 7.75 岁（范围为 4-20 岁）。平均诊断延迟为 4.6 年（范围为 1-14 年）。阳性家族史为 18.2%。在治疗前，患者的中位总血清 IgG 为 271.5mg/dL，中位 IgA 为 7.5mg/dL，中位 IgM 为 21mg/dL。感染是最常见的临床表现，63.6%的患者以鼻-肺感染为首发表现。23 例 CVID 患者发生支气管扩张，8 例患者在 CVID 诊断前发现支气管扩张。所有患者均接受免疫球蛋白替代治疗，1 例患者因肉芽肿性淋巴细胞间质性肺病（GLILD）死亡。
CVID 是一组病因不明的免疫功能紊乱的异质性疾病。各国在 CVID 相关并发症的临床表现和患病率方面存在显著差异。需要制定当地的诊断和临床随访指南。
