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 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.

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