scholarly journals Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots

2017 ◽  
Vol 54 (1) ◽  
pp. 14-19 ◽  
Author(s):  
Stephanie Richards ◽  
James Pitt ◽  
Sharon Choo
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Dried Blood Spots ◽  
Combined Immunodeficiency ◽  
Blood Spots

Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review

2020 ◽  
Vol 19 ◽  
Author(s):  
Khyber Shinwari ◽  
Mikhail Bolkov ◽  
Irina A. Tuzankina ◽  
Valery Alexandrovich CHERESHNEV
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Case Series ◽  
Cell Receptor ◽  
The United States ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Different Types ◽  
Excision Circles

Introduction: Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) and Kappa re-ceptor excision circles in neonatal dried blood spots (DBS) enables early diagnosis of different types of primary immune deficiencies. Global newborn screening for PID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC, TREC/KREC combines screening, and continued challenges to implementation. Objective: To review the diagnostic performance of published articles for TREC and TREC/ KREC based NBS for PID and its different types. Methods: Different research resources were used to get an approach for the published data of TREС and KREC based NBS for PID like PubMed, Scopus, Google Scholar, Research gate EMBASE. We extracted TREC and KREC screening Publisher with years of publication, content and cut-off values, and a number of retests, repeat DBS, and referrals from the different published pilot, pilot cohort, Case series, and cohort studies. Results: We included the results of TREC, combine TREC/KREC system based NBS screening from different research articles,and divided these results between the Pilot studies, case series, and cohort. For each of these studies, different parameter data are excluded from different articles. Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. Individual TREC contents in all SCID patients were <25 TRECs/μl (except in those evaluated with the New York State assay). Conclusion: TREC and KREC sensitivity for typical SCID and other types of PID was100 %. It shows its importance and anticipating the significance of implementation in different undeveloped and developed countries in the NBS program in upcoming years. Data adapting the screening algorithm for pre-term/ill infants reduce the amount of false-positive test re-sults.

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

2018 ◽  
Vol 38 (7) ◽  
pp. 778-786 ◽  
Author(s):  
Marie A. P. Audrain ◽  
Alexandra J. C. Léger ◽  
Caroline A. F. Hémont ◽  
Sophie M. Mirallié ◽  
David Cheillan ◽  
...  
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Clinical Performance ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency

scholarly journals T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges

2013 ◽  
Vol 2 (1) ◽  
pp. 3 ◽  
Author(s):  
Marco Chiarini ◽  
Cinzia Zanotti ◽  
Federico Serana ◽  
Alessandra Sottini ◽  
Diego Bertoli ◽  
...  
Keyword(s):  
T Cell ◽  
B Cell ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Blood Spots ◽  
T Cell Lymphopenia ◽  
Excision Circles

Since its introduction as a public health programme in the United States in the early 1960s, newborn blood screening (NBS) has evolved from the detection of phenylalanine levels on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency. This latter use of NBS has required the development of an assay for T-cell lymphopenia based on the quantification of T-cell receptor excision circles (TRECs) that could be performed on dried blood spots routinely collected from newborn infants. The TREC-based NBS was developed six years ago, and there have already been 7 successful pilot studies since then. Similarly, efforts are now being made to establish a screen for B-cell defects, in particular agammaglobulinaemia, taking advantage of the introduction of the method for the quantification of K-deleting recombination excision circles (KRECs). A further achievement of NBS could be the simultaneous recognition of T- and B-cell defects using the combined quantification of TRECs and KRECs from Guthrie card blood spots. This approach may help the early identification of infants with T- and B-cell deficiencies so that they can then be referred to specialised paediatric centres, where a precise diagnosis of severe combined immunodeficiency and agammaglobulinaemia can be performed, and where then they can immediately receive specific therapy. Simultaneous TREC and KREC quantification should also allow classification of patients into subgroups and help identify children with less serious primary immunodeficiencies. This would help avoid the opportunistic infections and frequent hospitalisations that result from a late or lack of diagnosis.

scholarly journals Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

2021 ◽  
Vol 7 (3) ◽  
pp. 43
Author(s):  
Michael F. Cogley ◽  
Amy E. Wiberley-Bradford ◽  
Sean T. Mochal ◽  
Sandra J. Dawe ◽  
Zachary D. Piro ◽  
...  
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency ◽  
Individual Test ◽  
Copy Numbers ◽  
Excision Circles ◽  
Trec Assay

All newborn screening programs screen for severe combined immunodeficiency by measurement of T-cell receptor excision circles (TRECs). Herein, we report our experience of reporting TREC assay results as multiple of the median (MoM) rather than using conventional copy numbers. This modification simplifies the assay by eliminating the need for standards with known TREC copy numbers. Furthermore, since MoM is a measure of how far an individual test result deviates from the median, it allows normalization of TREC assay data from different laboratories, so that individual test results can be compared regardless of the particular method, assay, or reagents used.

scholarly journals Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

2019 ◽  
Vol 6 (1) ◽  
pp. 17-25 ◽  
Author(s):  
Yael Dinur Schejter ◽  
Amarilla Mandola ◽  
Brenda Reid
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Large Family ◽  
Cell Receptor ◽  
Severe Neutropenia ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency

Introduction: Coronin 1A belongs to a large family of actin regulatory proteins with a role in T cell homeostasis. A role for coronin 1A was also observed in macrophages, NK, and neuronal cells. To date, coronin 1A deficiency has been described in relatively few patients with combined immunodeficiency. Aim: We studied here the molecular and genetic basis of immunodeficiency detected by newborn screening for severe combined immunodeficiency. Methods: Patient data was collected in accordance with REB approved protocols. Immune work up, including T and B cell proliferative responses and serum concentrations of immunoglobulins, was performed. Next generation sequencing techniques and cellular analyses were also utilized. Results: The patient presented with T cell lymphopenia, reduction in CD4+CD45Ra+ cells and hypogammaglobulinemia. Uniquely, she also had persistent severe neutropenia. Whole exome sequencing and Sanger confirmation revealed a novel homozygous mutation in coronin 1A. Conclusion: Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening. Statement of novelty: We report here a patient with a novel mutation in coronin 1A, identified during newborn screening with low T cell receptor excision circle levels and neutropenia, which is a unique finding in this condition.

Sign in / Sign up

Export Citation Format

Share Document