PDF(Pubmed)
Abstract：
Early diagnosis and effective management of Primary immunodeficiency diseases (PIDs), particularly severe combined immunodeficiency (SCID), play a crucial role in minimizing associated morbidities and mortality. Newborn screening (NBS) serves as a valuable tool in facilitating these efforts. Timely detection and diagnosis are essential for swiftly implementing isolation measures and ensuring prompt referral for definitive treatment, such as allogeneic hematopoietic stem cell transplantation. The utilization of comprehensive protocols and screening assays, including T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC), is essential in facilitating early diagnosis of SCID and other PIDs, but their successful application requires clinical expertise and proper implementation strategy. Unfortunately, a notable challenge arises from insufficient funding for the treatment of PIDs. To address these issues, a collaborative approach is imperative, involving advancements in technology, a well-functioning healthcare system, and active engagement from stakeholders. The integration of these elements is essential for overcoming the existing challenges in NBS for PIDs. By fostering synergy between technology providers, healthcare professionals, and governmental stakeholders, we can enhance the efficiency and effectiveness of early diagnosis and intervention, ultimately improving outcomes for individuals with PIDs.
摘要：
原发性免疫缺陷病（PID）的早期诊断和有效管理，特别是严重的联合免疫缺陷（SCID），在减少相关发病率和死亡率方面发挥关键作用。新生儿筛查（NBS）是促进这些努力的宝贵工具。及时的检测和诊断对于迅速实施隔离措施和确保及时转诊以进行确定的治疗至关重要。例如异基因造血干细胞移植。综合方案和筛选试验的利用，包括T细胞受体切除环（TREC）和κ缺失重组切除环（KREC），对于促进SCID和其他PID的早期诊断至关重要，但它们的成功应用需要临床专业知识和适当的实施策略。不幸的是,一个显著的挑战来自治疗PID的资金不足.为了解决这些问题,合作的方法势在必行，涉及技术的进步，运转良好的医疗系统,以及利益相关者的积极参与。这些要素的整合对于克服NBS中针对PID的现有挑战至关重要。通过促进技术提供商之间的协同作用，医疗保健专业人员,和政府利益相关者，我们可以提高早期诊断和干预的效率和有效性，最终改善患有PID的个体的结果。
