Newborn screening for severe primary immunodeficiencies: diagnostic strategies for screening, tracking and follow-up

被引:0
|
作者
Borte, Stephan [1 ,2 ,3 ]
Borte, Michael [3 ,4 ]
Poege, Andreas [5 ]
Sack, Ulrich [6 ,7 ]
机构
[1] Univ Leipzig, Translat Zentrum Regenerat Med TRM Leipzig, D-04103 Leipzig, Germany
[2] Karolinska Inst, Dept Lab Med, Abt Klin Immunol, Stockholm, Sweden
[3] Klinikum St Georg gGmbH, ImmunDefektCtr Leipzig IDCL, Leipzig, Germany
[4] Klinikum St Georg gGmbH, Klin Kinder & Jugendmed, Leipzig, Germany
[5] Klinikum St Georg gGmbH, Zentrum Klin Chem Mikrobiol & Transfus Med, Leipzig, Germany
[6] Univ Leipzig, Translat Zentrum Regenerat Med TRM, D-04103 Leipzig, Germany
[7] Univ Leipzig, Fak Med, Inst Klin Immunol, D-04103 Leipzig, Germany
关键词
lymphopenia; neonatal screening; primary immunodeficiencies; severe combined immunodeficiency (SCID); X-linked agammaglobulinemia (XLA); IDENTIFICATION; IMMUNOGLOBULIN; ROTAVIRUS; CHILDREN; DISEASES; SYSTEM; CHAIN;
D O I
10.1515/labmed-2013-0033
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Primary immunodeficiencies such as severe combined immunodeficiency and X-linked agammaglobulinemia (Bruton's disease) are some of the latest additions to population-scale newborn screening campaigns. To identify these diseases at the neonatal stage, molecular technology to detect T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) has finally entered newborn screening laboratories, posing considerable demands towards resolution performance and comparability of the TREC and KREC assays used. Moreover, the heterogeneity of patients positively screened by these assays, and the diagnostic challenges in neonates, require comprehensive strategies for screening, tracking and follow-up. In this article, we discuss diagnostic possibilities and render the frame for rapid confirmation and therapeutic classification of neonates with severe primary immunodeficiencies originating from newborn screening programs.
引用
收藏
页码:107 / 120
页数:14
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