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新生儿严重联合免疫缺陷病筛查。

Newborn Screening for Severe Combined Immunodeficiency.

机构信息

Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.

Department of Allergy and Immunology, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.

出版信息

Immunol Allergy Clin North Am. 2021 Nov;41(4):543-553. doi: 10.1016/j.iac.2021.07.007.

DOI:10.1016/j.iac.2021.07.007

PMID:34602227

Abstract

The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naïve T-cell counts will also be detected. Newborn screening for SCID using the TREC assay has proven itself to be highly sensitive and cost-efficient. This review covers the history of SCID newborn screening, elaborates on the SCID subtypes and TREC assay limitations, and discusses diagnostic and management considerations for infants with a positive screen.

摘要

T 细胞受体切除环（TREC）检测是一种用于严重联合免疫缺陷（SCID）的有效筛查工具。TREC 检测旨在检测典型的 SCID 和渗漏性 SCID，但任何导致幼稚 T 细胞计数低的情况也会被检测到。使用 TREC 检测进行 SCID 的新生儿筛查已被证明具有高度的敏感性和成本效益。这篇综述涵盖了 SCID 新生儿筛查的历史，详细阐述了 SCID 亚型和 TREC 检测的局限性，并讨论了对筛查阳性婴儿的诊断和管理注意事项。