背景:普通可变免疫缺陷(CVID)被认为是人类先天性免疫错误的最有症状的类型。除了感染并发症,有很多后果,非感染性并发症是CVID患者的主要挑战.
方法:在国家数据库中登记的所有CVID患者均纳入本回顾性队列研究。根据B细胞淋巴细胞减少症的存在将患者分为2组。人口特征,实验室发现,非感染性器官受累,自身免疫,和淋巴增生性疾病进行了评估。
结果:在387名患者中,66.4%被诊断为非感染性并发症,33.6%被诊断为孤立的感染性表现。肠病,自身免疫,和淋巴增生性疾病的报告占35.1%,24.3%,21.4%的患者,分别。一些并发症,包括自身免疫和肝脾肿大,据报道,B细胞淋巴细胞减少症患者的发病率明显更高。至于器官参与,皮肤病学,内分泌,在患有B细胞淋巴细胞减少症的CVID患者中,肌肉骨骼系统主要受到影响。在自身免疫表现中,风湿病的频率,血液学,据报道,胃肠道自身免疫高于与B细胞淋巴细胞减少无关的其他类型的自身免疫。此外,血液肿瘤,尤其是淋巴瘤,是最常见的恶性肿瘤.死亡率为24.5%,呼吸衰竭和恶性肿瘤是最常见的死亡原因,2组间无显著差异。
结论:考虑到一些非感染性并发症可能与B细胞淋巴细胞减少有关,强烈建议定期对患者进行监测,并采用适当的药物治疗(除免疫球蛋白替代疗法外)进行随访,以预防后遗症,提高患者的生活质量.
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.