Two-tiered universal newborn screening strategy for severe combined immunodeficiency

被引：47

作者：

McGhee, SA ^{[1
]}

Stiehm, ER

Cowan, M

Krogstad, P

McCabe, ERB

机构：

[1] Calif State Univ Los Angeles, David Geffen Sch Med, Dept Pediat Immunol, Los Angeles, CA 90032 USA

[2] Univ Calif San Francisco, Dept Pediat Bone Marrow Transplantat, San Francisco, CA 94143 USA

[3] Calif State Univ Los Angeles, David Geffen Sch Med, Dept Pediat Infect Dis, Los Angeles, CA 90032 USA

[4] Calif State Univ Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90032 USA

[5] Calif State Univ Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90032 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2005年 / 86卷 / 04期

关键词：

interleukin-7; TRECs; newborn screening; immunodeficiency; severe combined immunodeficiency; lymphopenia;

D O I：

10.1016/j.ymgme.2005.09.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

3Outcomes for infants with severe combined immunodeficiency (SCID) would be improved by universal newborn screening, but there are not vet screening tests of sufficient accuracy for the disorder. In a pilot study, we assessed the ability of a two-tiered strategy to improve accuracy. Dried blood samples from patients were assessed with two tests for lymphopenia: interleukin-7, a T-cell growth cytokine, and TRECs, a byproduct of T-cell receptor recombination. IL-7 screening has a specificity of 96.1% and TRECs have a specificity of 92.3%. Combining these tests in a two-tiered strategy increases specificity to 100% (97-100% CI). Sensitivity was 85% for IL-7 screening and 100% for TREC screening. A two-tiered strategy may be of sufficient accuracy to enable universal SCID screening, and should be assessed in a prospective trial. (c) 2005 Elsevier Inc. All rights reserved.

引用

页码：427 / 430

页数：4

共 8 条

[1] Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count [J].