Department of Clinical Immunology, Karolinska University Hospital Huddinge, Stockholm, Sweden; Department of Immunopathology, SA Pathology, Women's and Children's Hospital Campus, Adelaide, Australia; Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, Adelaide, Australia.
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
J Allergy Clin Immunol. 2021 Feb;147(2):428-438. doi: 10.1016/j.jaci.2020.12.633.
Wilson and Jungner's recommendations for population-based screening have been used to guide decisions regarding candidate disease inclusion in newborn screening programs for the past 50 years. The advent of genomic-based technologies, including next-generation sequencing and its potential application to newborn screening, along with a changing landscape in terms of modern clinical practice and ethical, social, and legal considerations has led to a call for review of these criteria. Inborn errors of immunity (IEI) are a heterogeneous group of more than 450 genetically determined disorders of immunity, which are associated with significant morbidity and mortality, particularly where diagnosis and treatment are delayed. We argue that in addition to screening for severe combined immunodeficiency disease, which has already been initiated in several countries, other clinically significant IEI should be screened for at birth. Because of disease heterogeneity and identifiable genetic targets, a next-generation sequencing-based screening approach would be most suitable. A combination of worldwide experience and technological advances has improved our ability to diagnose and effectively treat patients with IEI. Considering IEI in the context of updated recommendations for population-based screening supports their potential inclusion as disease targets in newborn screening programs.
威尔逊和荣格的基于人群的筛查建议已被用于指导过去 50 年来候选疾病纳入新生儿筛查计划的决策。基因组技术的出现，包括下一代测序及其在新生儿筛查中的潜在应用，以及现代临床实践以及伦理、社会和法律考虑方面的不断变化，导致了对这些标准的审查。先天性免疫缺陷（IEI）是一组超过 450 种由遗传决定的免疫障碍的异质性疾病，这些疾病与显著的发病率和死亡率相关，特别是在诊断和治疗延迟的情况下。我们认为，除了已经在几个国家开始的严重联合免疫缺陷病的筛查外，还应该在出生时筛查其他具有临床意义的 IEI。由于疾病的异质性和可识别的遗传靶点，下一代测序为基础的筛查方法是最合适的。全球经验和技术进步的结合提高了我们诊断和有效治疗 IEI 患者的能力。在基于人群的筛查的最新建议背景下考虑 IEI 支持将其作为疾病目标纳入新生儿筛查计划。
