Future Perspectives of Newborn Screening for Inborn Errors of Immunity

被引:10
作者
Blom, Maartje [1 ]
Bredius, Robbert [2 ]
van der Burg, Mirjam [1 ]
机构
[1] Leiden Univ, Med Ctr, Willem Alexander Childrens Hosp, Lab Pediat Immunol,Dept Pediat, NL-2300 RC Leiden, Netherlands
[2] Leiden Univ, Willem Alexander Childrens Hosp, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands
关键词
newborn screening; inborn errors of immunity; severe combined immunodeficiency; TREC; KREC; epigenetic immune cell counting; next-generation sequencing; PRIMARY IMMUNODEFICIENCY DISEASES; X-LINKED AGAMMAGLOBULINEMIA; SEVERE CONGENITAL NEUTROPENIA; TANDEM MASS-SPECTROMETRY; EXCISION CIRCLES; BLOOD; TRANSPLANTATION; GUIDELINES; MUTATIONS; DIAGNOSIS;
D O I
10.3390/ijns7040074
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Newborn screening (NBS) programs continue to expand due to innovations in both test methods and treatment options. Since the introduction of the T-cell receptor excision circle (TREC) assay 15 years ago, many countries have adopted screening for severe combined immunodeficiency (SCID) in their NBS program. SCID became the first inborn error of immunity (IEI) in population-based screening and at the same time the TREC assay became the first high-throughput DNA-based test in NBS laboratories. In addition to SCID, there are many other IEI that could benefit from early diagnosis and intervention by preventing severe infections, immune dysregulation, and autoimmunity, if a suitable NBS test was available. Advances in technologies such as KREC analysis, epigenetic immune cell counting, protein profiling, and genomic techniques such as next-generation sequencing (NGS) and whole-genome sequencing (WGS) could allow early detection of various IEI shortly after birth. In the next years, the role of these technical advances as well as ethical, social, and legal implications, logistics and cost will have to be carefully examined before different IEI can be considered as suitable candidates for inclusion in NBS programs.
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页数:13
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