Kirkpatrick Philippa, Riminton Sean
Department of Immunology, Concord Hospital, Sydney, Australia.
J Clin Immunol. 2007 Sep;27(5):517-24. doi: 10.1007/s10875-007-9105-z. Epub 2007 Jun 22.
Despite rapid developments in the science of primary immunodeficiency diseases (PID), population characteristics and the burden of disease are poorly characterized. Aggregated data on PID via patient registries are a key component of the public health response. The web-enabled Australasian Society of Clinical Immunology and Allergy PID Register was designed and implemented to address gaps in knowledge of PID.
The register provided a cumulative, cross-sectional survey of PID patients in Australia and New Zealand via an online, single time point, center-based, voluntarily recalled, and patient-consented questionnaire.
Eighty-eight centers reported 1,209 patients across 56 separate PID syndromes. The study prevalence (cases per 100,000 population) was 5.6 for Australia, 12.4 for the state of South Australia, and 4.9 for Australia and New Zealand combined. Predominately antibody deficiency syndromes accounted for 77% of patients. Common variable immunodeficiency was the most common diagnosis. Patients were geographically dispersed with 80% of centers reporting caseloads of less than 20 patients. Potentially preventable complications of disease were common. Immunoglobulin replacement therapy was used in 30 conditions with 26.5% of the total recipients having antibody deficiency disorders with normal serum IgG.
PID in Australia and New Zealand are prevalent, clinically diverse, geographically dispersed, and are characterized by high rates of potentially preventable morbidity and resource utilization. A public health focus on PID is required, including strategies to correct disparities in access to care, improve molecular diagnostics and reduce preventable complications of disease. Further studies in antibody deficiency syndromes with normal serum IgG are required.
尽管原发性免疫缺陷疾病（PID）科学领域发展迅速，但该疾病的人群特征和疾病负担仍未得到充分描述。通过患者登记系统收集的PID汇总数据是公共卫生应对措施的关键组成部分。为填补PID知识空白，设计并实施了基于网络的澳大拉西亚临床免疫学与过敏学会PID登记系统。
该登记系统通过一份在线、单时间点、基于中心、自愿召回且患者同意的问卷，对澳大利亚和新西兰的PID患者进行了累积横断面调查。
88个中心报告了56种不同PID综合征的1209例患者。澳大利亚的研究患病率（每10万人中的病例数）为5.6，南澳大利亚州为12.4，澳大利亚和新西兰合并后为4.9。主要的抗体缺陷综合征占患者的77%。常见可变免疫缺陷是最常见的诊断。患者在地理上分布分散，80%的中心报告病例数少于20例。疾病潜在可预防的并发症很常见。免疫球蛋白替代疗法用于30种情况，总接受者中有26.5%患有抗体缺陷疾病且血清IgG正常。
澳大利亚和新西兰的PID普遍存在，临床症状多样，地理分布分散，其特点是潜在可预防的发病率和资源利用率较高。需要对PID给予公共卫生关注，包括纠正医疗服务获取方面的差距、改进分子诊断以及减少疾病可预防并发症的策略。需要对血清IgG正常的抗体缺陷综合征进行进一步研究。
