scholarly journals Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Blood ◽  
2012 ◽  
Vol 119 (11) ◽  
pp. 2552-2555 ◽  
Author(s):  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Anders Fasth ◽  
Ning Wang ◽  
Magdalena Janzi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Immunoglobulin A ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Inborn Errors ◽  
Guthrie Card ◽  
Excision Circles

Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

scholarly journals Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

2015 ◽  
Vol 35 (2) ◽  
pp. 227-233 ◽  
Author(s):  
Jay P. Patel ◽  
Jennifer M. Puck ◽  
Rajgopal Srinivasan ◽  
Christina Brown ◽  
Uma Sunderam ◽  
...  
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Excision Circles

scholarly journals Future Perspectives of Newborn Screening for Inborn Errors of Immunity

2021 ◽  
Vol 7 (4) ◽  
pp. 74
Author(s):  
Maartje Blom ◽  
Robbert G. M. Bredius ◽  
Mirjam van der Burg
Keyword(s):  
Newborn Screening ◽  
Immune Cell ◽  
Treatment Options ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Population Based ◽  
Protein Profiling ◽  
Cell Counting ◽  
Inborn Errors ◽  
Trec Assay

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.

scholarly journals Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Stefan Kostadinov ◽  
Karen A. Robbins ◽  
Anthony Hayward
Keyword(s):  
Newborn Screening ◽  
B Lymphocyte ◽  
Severe Combined Immunodeficiency ◽  
Male Infant ◽  
Cell Receptor ◽  
Premature Neonate ◽  
Fibrin Deposition ◽  
Thymic Involution ◽  
Real Time Quantitative Pcr ◽  
Excision Circles

Severe combined immunodeficiency (SCID), a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T-) lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs) by real time quantitative PCR (RT-qPCR). This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and amassive perivillous fibrin deposition(MPFD) of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening.

scholarly journals Establishing Newborn Screening for SCID in the USA; Experience in California

2021 ◽  
Vol 7 (4) ◽  
pp. 72
Author(s):  
Jennifer M. Puck ◽  
Andrew R. Gennery
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Receptor Gene ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Dried Blood Spots ◽  
Infectious Complications ◽  
Serious Infections ◽  
The Usa ◽  
Excision Circles

Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure.

Nijmegen Breakage Syndrome Detected By Newborn Screening for T Cell Receptor Excision Circles (TRECs)

2015 ◽  
Vol 135 (2) ◽  
pp. AB14 ◽  
Author(s):  
Jay Patel ◽  
Jennifer M. Puck ◽  
Kunal Kundu ◽  
Uma Sunderam ◽  
Christina Brown ◽  
...  
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Excision Circles
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