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Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
Journal of Allergy and Clinical Immunology ( IF 11.4 ) Pub Date : 2021-09-16 , DOI: 10.1016/j.jaci.2021.08.026
Maartje Blom 1 , Rolf H Zetterström 2 , Asbjørg Stray-Pedersen 3 , Kimberly Gilmour 4 , Andrew R Gennery 5 , Jennifer M Puck 6 , Mirjam van der Burg 1
Affiliation  

Background

Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia.

Objectives

This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge.

Methods

A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs.

Results

The study’s recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance.

Conclusions

By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.



中文翻译:

用于新生儿严重联合免疫缺陷筛查的统一定义的建议

背景

公共卫生新生儿筛查 (NBS) 计划不断发展,利用国际共享学习。许多国家最近引入了针对严重联合免疫缺陷 (SCID) 的 NBS。然而,由于使用不同的术语以及对伴有 T 细胞淋巴细胞减少的非 SCID 病症的不精确或多变的病例定义,筛查结果的比较受到了阻碍。

目标

本研究旨在确定标准化筛查术语是否可以克服巴比伦式的混淆,以及改进病例定义是否会促进国际知识交流。

方法

系统的文献综述强调了国际上 SCID NBS 项目中的不同术语。虽然正如预期的那样,个体筛查策略和测试是针对每个项目量身定制的,但我们发现在疾病目标、敏感性和特异性方面缺乏统一的术语来进行跨项目比较。

结果

该研究的建议反映了来自文献和现有指南的当前证据,以及公共卫生筛查和免疫学专家的意见。术语一致。澄清了非 SCID 病例中可采取行动和不可采取行动的 T 细胞淋巴细胞减少症之间的区别,前者是患有 T 细胞淋巴细胞减少症的婴儿,他们可以从感染保护、抗生素预防和减毒活疫苗避免等干预措施受益

结论

通过汇集以前不相关的公共卫生筛查社区和临床免疫学社区,这些 SCID NBS 审议弥合了这些学科之间在语言和观点上的差距。这项研究建议国际专家在进行 NBS 的每一种疾病中联合起来完善他们的定义,并建议对 NBS 结果进行统一登记。术语标准化将促进国际知识交流,优化 NBS 和后续护理的每个阶段,促进全球儿童的健康成果。

更新日期:2021-09-16
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