Quinti Isabella, Soresina Annarosa, Spadaro Giuseppe, Martino Silvana, Donnanno Simona, Agostini Carlo, Claudio Pignata, Franco Dammacco, Maria Pesce Anna, Borghese Federica, Guerra Andrea, Rondelli Roberto, Plebani Alessandro
Department of Clinical Immunology, University of Rome La Sapienza Rome, Rome, Italy.
J Clin Immunol. 2007 May;27(3):308-16. doi: 10.1007/s10875-007-9075-1. Epub 2007 Feb 14.
Common Variable Immunodeficiency belongs to the group of rare diseases encompassing antibody deficiency syndromes of highly variable clinical presentation and outcome. The multicenter prospective study on a cohort of 224 patients with Common Variable Immunodeficiency provides an updated view of the spectrum of illnesses which occurred at the clinical onset and over a long period of follow-up (mean time: 11 years) and information on the effects of long-term immunoglobulin treatment. The mean age at the time of diagnosis was 26.6 years. Seventy-five patients were younger than 14 years of age. The mean age at the onset of symptoms was 16.9 years. This implicates with a mean diagnostic delay of 8.9 years. Respiratory tract infections were the most prominent clinical problem observed at diagnosis and during the follow-up. Intravenous immunoglobulin administration induced a significant reduction in the incidence of acute infections, mainly acute pneumonia and acute otitis. However, a progressive increase in the prevalence of patients with chronic diseases, mainly sinusitis and lung disease, was observed in all age groups, including the pediatric population. The morbidity of Common Variable Immunodeficiency due to all associated clinical conditions increased over time despite an adequate replacement with intravenous immunoglobulins. Our data stressed the need to develop international guidelines for the prevention and therapy of chronic lung disease, chronic sinusitis, chronic diarrhoea, and chronic granulomatosis in patients with humoral immunodeficiencies.
普通可变免疫缺陷属于一组罕见疾病，包括临床表现和预后高度可变的抗体缺陷综合征。一项针对224例普通可变免疫缺陷患者的多中心前瞻性研究，提供了关于临床发病时以及长期随访（平均时间：11年）期间所出现疾病谱的最新观点，以及长期免疫球蛋白治疗效果的信息。诊断时的平均年龄为26.6岁。75例患者年龄小于14岁。症状出现时的平均年龄为16.9岁。这意味着平均诊断延迟为8.9年。呼吸道感染是诊断时及随访期间观察到的最突出临床问题。静脉注射免疫球蛋白可使急性感染（主要是急性肺炎和急性中耳炎）的发生率显著降低。然而，在所有年龄组，包括儿童人群中，观察到慢性病（主要是鼻窦炎和肺部疾病）患者的患病率逐渐增加。尽管静脉注射免疫球蛋白进行了充分替代，但由于所有相关临床状况导致的普通可变免疫缺陷的发病率仍随时间增加。我们的数据强调了制定针对体液免疫缺陷患者慢性肺病、慢性鼻窦炎、慢性腹泻和慢性肉芽肿病的预防和治疗国际指南的必要性。
