Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, University of California San Francisco School of Medicine and UCSF Benioff Children's Hospital San Francisco, San Francisco, Calif.
Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, University of California San Francisco School of Medicine and UCSF Benioff Children's Hospital San Francisco, San Francisco, Calif.
J Allergy Clin Immunol. 2021 Feb;147(2):417-426. doi: 10.1016/j.jaci.2020.10.020.
Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating infections and receive prompt immune-restoring therapy. The T-cell receptor excision circle test, developed in 2005, proved to be successful in pilot studies starting in the period 2008 to 2010, and by 2019 all states in the United States had adopted versions of it in their public health programs. Introduction of newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has drastically changed the presentation of this disorder while providing important lessons for public health programs, immunologists, and transplanters.
新生儿严重联合免疫缺陷症(最严重的原发性免疫系统缺陷)的筛查长期以来一直被认为是一种降低发病率和改善预后的措施,通过帮助患者避免严重感染并及时接受免疫修复治疗。2005 年开发的 T 细胞受体切除环检测在 2008 年至 2010 年期间的试点研究中取得了成功,到 2019 年,美国所有州都在其公共卫生计划中采用了这种检测方法。新生儿严重联合免疫缺陷症筛查的引入改变了这种疾病的表现方式,这是第一个被接受用于人群筛查的免疫疾病,为公共卫生计划、免疫学家和移植学家提供了重要的经验教训。