Statewide Newborn Screening Program for Severe Combined Immunodeficiency (SCID) by Quantitating T-cell Receptor Excision Circles (TRECs)

2008 ◽  
Vol 121 (3) ◽  
pp. 798
Author(s):  
W.J. Grossman ◽  
J.M. Routes ◽  
R.H. Laessig ◽  
M.W. Baker
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Excision Circles

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.

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

Neonatal Lymphopenia Screening Is Important For Early Diagnosis of Severe Combined Immunodeficiency

2021 ◽  
Author(s):  
Aykut Poyraz ◽  
Murat Cansever ◽  
Ipek Muderris ◽  
Turkan Patiroglu
Keyword(s):  
T Cell ◽  
T Cell Receptor ◽  
Umbilical Cord Blood ◽  
Lymphocyte Count ◽  
Blood Count ◽  
Complete Blood Count ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency ◽  
Excision Circles

Objective T-cell receptor excision circles are expensive for neonatal severe combined immunodeficiency screening in developing countries. We aimed to detect immunodeficiencies presenting with lymphopenia to enable screening in the general population and to improve awareness regarding lymphopenia among clinicians. Study Design This study was conducted prospectively. In all newborns included, complete blood count from umbilical cord blood samples was recorded. Absolute lymphopenia was defined as absolute lymphocyte count <3,000/mm3 in umbilical cord blood sample. Complete blood count was repeated at month 1 in cases found to have lymphopenia. Results Overall, 2,000 newborns were included in the study. Absolute lymphopenia was detected in 42 newborns (2.1%), while lymphocyte count was >3,000/mm3 in 1,958 newborns (97.9%). Two infants with persisted lymphopenia at the end of the first month; therefore, further evaluations such as lymphocyte subsets for severe combined immunodeficiency (SCID) were done. In the first infant, the lymphocyte subgroups were detected as compatible with T (−), B (−), natural killer cells (NK) (+) SCID phenotype RAG defect. Sanger sequencing revealed that NM_000448 c.2209C > T (p.R737C) homozygous mutation of RAG1 gene. In the other infant, the lymphocyte subgroups were found as considered with T (−), B (+) NK (−) SCID phenotype JAK3 defect. Both patients underwent hematopoietic stem cell transplantation from human leukocyte antigen-matched family member. Conclusion Absolute lymphopenia by complete blood count is a more simpler, relatively noninvasive and inexpensive screening methodfor detection of SCID in newborns compared with T-cell receptor excision circles technique. Key Points

Sign in / Sign up

Export Citation Format

Share Document