首页> Journal of clinical immunology> Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.

Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.

导出 OA

翻译打印收藏纠错

第一作者： Maartje,Blom

第一单位： Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.

作者： Maartje,Blom ^[1] ; Ingrid,Pico-Knijnenburg ^[1] ; Sandra,Imholz ^[2] ; Lotte,Vissers ^[1] ; Janika,Schulze ^[3] ; Jeannette,Werner ^[3] ; Robbert,Bredius ^[4] ; Mirjam,van der Burg ^[5]

作者单位： Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. ^[1] Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands. ^[2] Department of Research and Development, Epimune GmbH, Belin, Germany. ^[3] Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands. ^[4] Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. m.van_der_burg@lumc.nl. ^[5]

关键词 Epigenetic immune cell counting Inborn errors of immunity NGS Newborn screening Next-generation sequencing SCID Second tier Severe combined immunodeficiency TRECs

医学主题词算法(Algorithms);假阳性反应(False Positive Reactions);人类(Humans);婴儿, 新生(Infant, Newborn);新生儿筛查(Neonatal Screening);受体, 抗原, T细胞(Receptors, Antigen, T-Cell);重症联合免疫缺陷(Severe Combined Immunodeficiency)

DOI 10.1007/s10875-021-01107-2

PMID 34370170

发布时间 2024-08-23

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交