新生儿筛查在原发性免疫缺陷诊断中的作用。

IF 8.4 2区 医学 Q1 ALLERGY Clinical Reviews in Allergy & Immunology Pub Date : 2022-08-01 DOI:10.1007/s12016-021-08876-z
Lisa J Kobrynski
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引用次数: 2

摘要

新生儿严重联合免疫缺陷(SCID)筛查是通过人群筛查发现的首个先天性免疫缺陷(IEI)。这也是首个利用新生儿干血斑点DNA分子检测的新生儿筛查试验。新生儿SCID筛查为测量这种疾病的人群患病率和评估早期干预对患儿总体结局的影响提供了机会。SCID新生儿筛查的成功增加了开发和实施其他临床显著的先天性免疫错误分子检测的兴趣。这种方法也适用于筛查另一种单基因先天性缺陷,脊髓肌萎缩。许多先天性免疫错误的临床护理和新疗法的进展支持了早期诊断和迅速建立治疗以降低发病率和死亡率的必要性。早期诊断也可以改善受影响患者的生活质量。本文概述了新生儿SCID筛查、后续检测和早期干预的建议步骤以及长期随访。许多挑战仍然存在,包括关于确认性和诊断性测试、早期干预和受影响婴儿免疫重建的最佳做法的临床共识的发展。
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Newborn Screening in the Diagnosis of Primary Immunodeficiency.

Newborn screening for severe combined immune deficiency (SCID) is the first inborn error of immunity (IEI) to be detected through population screening. It also represents the first newborn screening test to utilize molecular testing on DNA from newborn dried blood spots. Newborn screening for SCID has provided opportunities to measure the population prevalence of this disorder and evaluate the effect of early interventions on the overall outcomes in affected infants. The success of SCID newborn screening has increased interest in developing and implementing molecular testing for other clinically significant inborn errors of immunity. This methodology has been adapted to screen for another monogenic inborn defect, spinal muscle atrophy. Advances in the clinical care and new therapeutics for many inborn errors of immunity support the need for early diagnosis and prompt institution of therapies to reduce morbidity and mortality. Early diagnosis may also improve the quality of life for affected patients. This article provides an overview of newborn screening for SCID, recommended steps for follow-up testing and early intervention as well as long-term follow-up. Numerous challenges remain, including the development of clinical consensus regarding confirmatory and diagnostic testing, early interventions, and best practices for immune reconstitution in affected infants.

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来源期刊
CiteScore
22.30
自引率
1.10%
发文量
58
审稿时长
6-12 weeks
期刊介绍: Clinical Reviews in Allergy & Immunology is a scholarly journal that focuses on the advancement of clinical management in allergic and immunologic diseases. The journal publishes both scholarly reviews and experimental papers that address the current state of managing these diseases, placing new data into perspective. Each issue of the journal is dedicated to a specific theme of critical importance to allergists and immunologists, aiming to provide a comprehensive understanding of the subject matter for a wide readership. The journal is particularly helpful in explaining how novel data impacts clinical management, along with advancements such as standardized protocols for allergy skin testing and challenge procedures, as well as improved understanding of cell biology. Ultimately, the journal aims to contribute to the improvement of care and management for patients with immune-mediated diseases.
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