期刊
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY
卷 7, 期 6, 页码 522-527出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ACI.0b013e3282f14a2a
关键词
bone marrow transplantation; early diagnosis; hematopoietic stem cell transplantation; live vaccine; newborn screening; primary immunodeficiency
Purpose of review Severe combined immunodeficiency has been identified as a high-priority disease for inclusion in population-based newborn screening programs. In this review, the justification, advances to date and remaining challenges for universal severe combined immunodeficiency screening are outlined. Recent findings Severe combined immunodeficiency is treatable by hematopoietic stem cell transplantation, with best outcome if recognized and treated early in life. Universal screening of newborns could make possible prompt diagnosis and lifesaving treatment for all affected infants. One screening test using the dried blood spots already collected from all newborns involves quantitation of T cell receptor excision circles, and other test methods have been proposed and are being evaluated. Development of screening programs will require integration of screening, contacting infants with abnormal screen results for definitive testing, prompt treatment of affected infants, and outcome tracking. Summary Newborn screening for severe combined immunodeficiency is advancing toward pilot trials.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据