期刊
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 147, 期 2, 页码 428-438出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2020.12.633
关键词
Inborn errors of immunity; newborn screening; next-generation sequencing; severe combined immunodeficiency
资金
- Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health [1 ZIA AI001222-02]
Wilson and Jungner's recommendations have guided newborn screening programs for the past 50 years, but the advancement in genomic technologies and changing landscape in clinical practice and ethical considerations has led to a call for a review of screening criteria. Inborn errors of immunity (IEI) are a heterogeneous group of disorders associated with significant morbidity and mortality, highlighting the need to consider their inclusion in newborn screening programs using next-generation sequencing technology.
Wilson and Jungner's recommendations for population-based screening have been used to guide decisions regarding candidate disease inclusion in newborn screening programs for the past 50 years. The advent of genomic-based technologies, including next-generation sequencing and its potential application to newborn screening, along with a changing landscape in terms of modern clinical practice and ethical, social, and legal considerations has led to a call for review of these criteria. Inborn errors of immunity (IEI) are a heterogeneous group of more than 450 genetically determined disorders of immunity, which are associated with significant morbidity and mortality, particularly where diagnosis and treatment are delayed. We argue that in addition to screening for severe combined immunodeficiency disease, which has already been initiated in several countries, other clinically significant IEI should be screened for at birth. Because of disease heterogeneity and identifiable genetic targets, a next-generation sequencing-based screening approach would be most suitable. A combination of worldwide experience and technological advances has improved our ability to diagnose and effectively treat patients with IEI. Considering IEI in the context of updated recommendations for population-based screening supports their potential inclusion as disease targets in newborn screening programs.
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