Introduction and objectives

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.

Materials and methods

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).

Results

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 271.5 mg/dL, median IgA was 7.5 mg/dL, and median IgM was 21 mg/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).

Conclusions

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.

中文翻译：

---

44例常见变异型免疫缺陷患者的临床和免疫学特征：土耳其单中心的经验

介绍和目标

常见变异型免疫缺陷病 (CVID) 是最常见的原发性免疫缺陷病形式之一，其特征是低丙种球蛋白血症。其异质性临床特征包括反复呼吸道感染和其他并发症，如胃肠道、自身免疫和淋巴组织增生性疾病。本文的目的是评估 CVID 患者的一般特征。

材料和方法

对 44 例 CVID 患者的临床和免疫学特征进行了长期随访的回顾性评估。参与研究的患者根据欧洲免疫缺陷病学会（ESID）的标准进行诊断。

结果

出现症状的中位年龄为 2.75 岁（范围为 6 个月至 17 岁），诊断时的中位年龄为 7.75 岁（范围为 4-20 岁）。诊断的平均延迟为 4.6 年（范围 1-14 年）。阳性家族史为 18.2%。治疗前，患者血清总IgG中位数为271.5 mg/dL，IgA中位数为7.5 mg/dL，IgM中位数为21 mg/dL。感染是最常见的临床表现，63.6%的患者以窦肺感染为首发表现。23 名 CVID 受试者出现支气管扩张，而 8 名患者在 CVID 诊断之前检测到支气管扩张。所有患者均接受免疫球蛋白替代治疗，1例患者死于肉芽肿性淋巴细胞间质性肺病（GLILD）。

结论

CVID 是一组异质性免疫疾病，病因不明。各国之间 CVID 相关并发症的临床表现和患病率存在​​显着差异。需要当地的诊断和临床随访指南。