Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
J Investig Allergol Clin Immunol. 2012;22(3):208-14.
Common variable immunodeficiency (CVID) is the most common form of symptomatic primary immunodeficiency disease. It is characterized by hypogammaglobulinemia, increased predisposition to infections, autoimmunity, and cancer.
This study was performed to evaluate the clinical and immunological features of a group of pediatric patients with CVID.
The study population comprised 69 individuals with CVID diagnosed during childhood.
The patients were followed up for a mean (SD) period of 5.2 (4.3) years. The mean diagnostic delay was 4.4 (3.6) years, which was significantly lower in patients who were diagnosed recently. Children were classified according to 5 clinical phenotypes: infections only (n=39), polyclonal lymphocytic infiltration (n=17), autoimmunity (n=12), malignancy (n=7), and enteropathy (n=3). Postdiagnosis survival (10-year) was 71%.
The high percentages of pediatric patients with CVID in Iran may be due to the considerable prevalence of parental consanguinity in the region and an underlying genetic background.
普通变异性免疫缺陷(CVID)是症状性原发性免疫缺陷病中最常见的形式。其特征为低丙种球蛋白血症、增加感染易感性、自身免疫和癌症。
本研究旨在评估一组儿科 CVID 患者的临床和免疫学特征。
研究人群包括 69 名在儿童时期被诊断为 CVID 的个体。
患者的平均(SD)随访时间为 5.2(4.3)年。平均诊断延迟为 4.4(3.6)年,最近诊断的患者的诊断延迟明显较低。根据 5 种临床表型对儿童进行分类:仅感染(n=39)、多克隆淋巴细胞浸润(n=17)、自身免疫(n=12)、恶性肿瘤(n=7)和肠病(n=3)。诊断后生存(10 年)率为 71%。
伊朗儿科 CVID 患者的高比例可能归因于该地区父母近亲婚配的相当高的流行率和潜在的遗传背景。