Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Public Health Rep. 2010 May-Jun;125 Suppl 2(Suppl 2):88-95. doi: 10.1177/00333549101250S211.
Severe combined immunodeficiency (SCID) is the result of genetic defects that impair normal T-cell development. SCID babies typically appear normal at birth, but acquire multiple life-threatening infections within a few months. Early diagnosis and treatment with a bone-marrow transplant markedly improves long-term outcomes. On January 1, 2008, the newborn screening (NBS) program in Wisconsin became the first in the world to routinely test all newborns for SCID. A realtime quantitative polymerase chain reaction assay measures T-cell receptor excision circles (TRECs), which are formed during the maturation of normal T-cells. A lack or very low number of TRECs is consistent with T-cell lymphopenia. The development and validation of the TREC assay and the results of the first year of screening have been published. This article describes the process used to add SCID to the NBS panel, the establishment of follow-up capacity, and the integration of SCID screening into routine NBS workflows. The development of this expanded NBS program is described so that other states might benefit from the processes used in Wisconsin.
严重联合免疫缺陷症（SCID）是遗传缺陷导致正常 T 细胞发育受损的结果。SCID 婴儿通常在出生时看起来正常，但在几个月内会获得多种危及生命的感染。早期诊断和骨髓移植治疗可显著改善长期预后。2008 年 1 月 1 日，威斯康星州的新生儿筛查（NBS）计划成为世界上第一个常规筛查所有新生儿 SCID 的计划。实时定量聚合酶链反应（PCR）检测测量 T 细胞受体切除环（TRECs），这些环在正常 T 细胞成熟过程中形成。TREC 的缺乏或非常低的数量与 T 细胞淋巴细胞减少症一致。TREC 检测的开发和验证以及第一年筛查的结果已经发表。本文描述了将 SCID 添加到 NBS 面板的过程、建立随访能力以及将 SCID 筛查纳入常规 NBS 工作流程的过程。描述了这个扩展的 NBS 计划的发展，以便其他州可以从威斯康星州使用的流程中受益。
