Early detection of primary immunodeficiency diseases (PID) is vital for adequate prevention and management of PID infectious complications. The objective of this study was to evaluate the impact of a model combining physician education and public awareness with the infrastructure to diagnose PID to improve its early detection in children. Three approaches were combined and the results were followed from February 2017 to February 2019 in Ternopil region, Ukraine: the education of primary care physicians and other specialists on early PID detection using workshops, trainings, and targeted publications; organization of public events and media appearances to raise PID awareness; performing immunological testing for patients with suspected PID. Among the 150 individuals that were screened, PID was diagnosed in 19 patients (12.7%). The majority of diagnosed PID cases were combined immunodeficiency with associated or syndromic features, followed by antibody deficiencies. Patients referred by the specialist doctors had the highest percentage of confirmed PID compared with those referred by primary care physicians (p = 0.0273) and risk group patients (p = 0.0447). Among warning signs in patients with PID, two or more pneumonias within 1 year occurred most often (26.3%), followed by failure of an infant to gain weight or grow normally (21.1%). Among other signs of PID, dysmorphic features and microcephaly were the most prevalent (31.6%). In conclusion, a program combining physician education and public awareness with infrastructure needed to diagnose primary immunodeficiency diseases is an effective tool for early PID diagnosis. Physician education was a more effective tool compared with rising public awareness.

中文翻译：

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将教育计划与改善诊断基础设施相结合的影响，可以及早发现儿童的原发性免疫缺陷。

早期发现原发性免疫缺陷疾病（PID）对于充分预防和管理PID感染性并发症至关重要。这项研究的目的是评估结合医师教育和公众意识以及基础设施诊断PID的模型的影响，以改善其在儿童中的早期发现。结合了三种方法，并于2017年2月至2019年2月在乌克兰捷尔诺波尔地区进行了跟踪研究：使用讲习班，培训和有针对性的出版物对初级保健医生和其他专家进行早期PID检测的教育；组织公共活动和媒体露面以提高PID意识；对疑似PID的患者进行免疫学测试。在筛查的150位个体中，有19位患者被诊断出PID（12.7％）。大多数诊断出的PID病例是合并有相关或综合征特征的免疫缺陷，然后是抗体缺陷。与初级保健医生（p = 0.0273）和风险组患者（p = 0.0447）推荐的患者相比，专科医生推荐的患者具有最高的确诊PID百分比。在PID病患的警告征兆中，一年内最常发生两次或两次以上的肺炎（26.3％），其次是婴儿体重增加或正常成长失败（21.1％）。在PID的其他迹象中，畸形特征和小头畸形最为普遍（31.6％）。总之，结合医师教育和公众意识以及诊断原发性免疫缺陷疾病所需基础设施的计划是早期PID诊断的有效工具。