Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children´s Medical Center, Tehran University of Medical Science, Tehran, Iran.
Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
J Investig Allergol Clin Immunol. 2024 Jul;34(4):233-245. doi: 10.18176/jiaci.0902.
Common variable immunodeficiency (CVID) is considered the most symptomatic type of inborn errors of immunity in humans. Along with infectious complications, which have numerous consequences, noninfectious complications are a major challenge among CVID patients.
All CVID patients registered in the national database were included in this retrospective cohort study. Patients were divided into 2 groups based on the presence of B-cell lymphopenia. Demographic characteristics, laboratory findings, noninfectious organ involvement, autoimmunity, and lymphoproliferative diseases were evaluated.
Among 387 enrolled patients, 66.4% were diagnosed with noninfectious complications and 33.6% with isolated infectious presentations. Enteropathy, autoimmunity, and lymphoproliferative disorders were reported in 35.1%, 24.3%, and 21.4% of patients, respectively. Some complications, including autoimmunity and hepatosplenomegaly, were reported to be significantly more frequent among patients with B-cell lymphopenia. As for organ involvement, the dermatologic, endocrine, and musculoskeletal systems were predominantly affected in CVID patients with B-cell lymphopenia. Among autoimmune manifestations, the frequency of rheumatologic, hematologic, and gastrointestinal autoimmunity was reported to be higher than that of other types of autoimmunity not associated with B cell-lymphopenia. Furthermore, hematological cancers, particularly lymphoma, were the most common type of malignancy. The mortality rate was 24.5%, and respiratory failure and malignancies were the most common causes of death, with no significant differences between the 2 groups.
Considering that some of the noninfectious complications might be associated with B-cell lymphopenia, regular patient monitoring and follow-up with proper medication (in addition to immunoglobulin replacement therapy) are highly recommended to prevent sequelae and increase patient quality of life.
普通变异性免疫缺陷症（CVID）被认为是人类最具症状性的先天性免疫缺陷症之一。除了具有众多后果的感染性并发症外，非感染性并发症也是 CVID 患者面临的主要挑战。
本回顾性队列研究纳入了国家数据库中登记的所有 CVID 患者。根据是否存在 B 细胞淋巴细胞减少症，将患者分为两组。评估了人口统计学特征、实验室检查结果、非感染性器官受累、自身免疫和淋巴增生性疾病。
在纳入的 387 名患者中，66.4%被诊断为存在非感染性并发症，33.6%为单纯感染性表现。分别有 35.1%、24.3%和 21.4%的患者报告存在肠病、自身免疫和淋巴增生性疾病。一些并发症，包括自身免疫和肝脾肿大，在存在 B 细胞淋巴细胞减少症的患者中报告更为频繁。就器官受累而言，B 细胞淋巴细胞减少症的 CVID 患者以皮肤、内分泌和肌肉骨骼系统为主。在自身免疫表现中，风湿性、血液学和胃肠道自身免疫的发生率高于与 B 细胞淋巴细胞减少症无关的其他类型的自身免疫。此外，血液系统癌症，特别是淋巴瘤，是最常见的恶性肿瘤类型。死亡率为 24.5%，呼吸衰竭和恶性肿瘤是最常见的死亡原因，两组之间无显著差异。
鉴于一些非感染性并发症可能与 B 细胞淋巴细胞减少症有关，建议对患者进行定期监测和随访，并适当给予药物治疗（除免疫球蛋白替代疗法外），以预防后遗症和提高患者生活质量。
