Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
复制标题
专家评论：新生儿严重联合免疫缺陷（SCID）筛查的实际问题。
DOI：
10.1007/s10875-011-9598-3
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发表时间：
2012
影响因子：
9.1
通讯作者：
Sullivan,Kate
中科院分区：
文献类型：
--
作者：
Puck,JenniferM;Routes,Jack;Filipovich,AlexandraH;Sullivan,Kate
凯特·沙利文：我们请该领域的专家就新生儿严重联合免疫缺陷（SCID）筛查这一新兴领域中一些更紧迫的问题发表评论。他们的宝贵的观点提供指导政策的建立，因为更多的国家考虑和实施新生儿筛查SCID。Jennifer Puck一直是新生儿筛查的大力倡导者，并首创了使用干血斑进行T细胞受体切除环（TREC）筛查的概念;自2010年8月以来，加州的所有新生儿都进行了TREC检测，Puck博士是加州遗传疾病实验室的免疫学顾问;她建立了一个集中的后续模式，筛查计划在全州范围内获得后续测试，并将其发送到一个免疫学实验室。Puck博士和她的南加州同事Joseph Church博士使用标准化分析板解释指定实验室的所有流式细胞仪结果。Jack Routes博士负责实施第一个SCID新生儿筛查项目，该项目于2008年1月在威斯康星州启动。威斯康星州是新生儿筛查领域的领导者。亚历山德拉（丽莎）菲利波维奇博士已经将辛辛那提儿童医院发展成为一个杰出的移植中心。限制毒性和改善结果的新方案是辛辛那提儿童医院创新的核心。
Kate Sullivan: We asked experts in the field to comment on some of the more pressing questions in the burgeoning field of newborn screening for severe combined immune deficiency (SCID). Their valuable perspectives are provided to guide the establishment of policies as additional states consider and implement newborn screening for SCID. Jennifer Puck has been a strong advocate for newborn screening and originated the concept of T cell receptor excision circle (TREC) screening using dried blood spots; the TREC assay has been performed on all newborns in California since August 2010, and Dr. Puck is the immunology consultant for the California GeneticDisease Lab; she has instituted a centralized follow-up model, with the screening program obtaining and sending follow-up tests throughout the state to a single immunology lab. Dr. Puck and her Southern California colleague, Dr. Joseph Church, interpret all flow cytometric results from a designated laboratory with a standardized analytic panel. Dr. Jack Routes was responsible for implementing the first state newborn screening program for SCID, which started in Wisconsin in January 2008. Wisconsin is a leader in the field of newborn screening. Dr. Alexandra (Lisa) Filipovich has developed Cincinnati Children's Hospital into one of the preeminent transplant centers. Novel protocols to limit toxicity and improve outcomes are central to the innovations at Cincinnati Children's Hospital.