Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being us...
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ftpubmed:oai:pubmedcentral.nih.gov:5121305 2023-05-15T16:16:53+02:00 Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases Jilkina, O. Thompson, J.R. Kwan, L. Van Caeseele, P. Rockman-Greenberg, C. Schroeder, M.L. 2014-08-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121305/ https://doi.org/10.1016/j.ymgmr.2014.07.003 en eng Elsevier http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121305/ http://dx.doi.org/10.1016/j.ymgmr.2014.07.003 Crown Copyright © 2014 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). CC-BY-NC-ND Newborn Screening Text 2014 ftpubmed https://doi.org/10.1016/j.ymgmr.2014.07.003 2016-12-04T01:29:56Z In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID patients in Manitoba are T-cell-positive. Therefore it is likely that the TREC assay will not identify these infants. The goal of this study was to blindly and retrospectively perform TREC analysis in confirmed SCID patients using archived Guthrie cards. Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). As a non-SCID patient group, 5 Primary Immunodeficiency Disease (PID) patients were studied: 1 T-negative PID (cartilage-hair hypoplasia) and 4 T-positive PID (2 common immune deficiency (CID), 1 Wiskott–Aldrich syndrome, and 1 X-linked lymphoproliferative disease). Both patient groups required hematopoietic stem cell transplantation. In addition, randomly-selected de-identified controls (n = 982) were tested. Results: all T-negative SCID and PID had zero TRECs. Low-TRECs were identified in 2 ZAP70 siblings, 1 CID patient as well as 5 preterm, 1 twin, and 4 de-identified controls. Conclusions: TREC method will identify T-negative SCID and T-negative PID. To identify other SCID babies, newborn screening in Manitoba must include supplemental targeted screening for ethnic-specific mutations. Text First Nations PubMed Central (PMC) Aldrich ENVELOPE(158.217,158.217,-80.117,-80.117) Canada Molecular Genetics and Metabolism Reports 1 324 333 |
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Newborn Screening |
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Newborn Screening Jilkina, O. Thompson, J.R. Kwan, L. Van Caeseele, P. Rockman-Greenberg, C. Schroeder, M.L. Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
topic_facet |
Newborn Screening |
description |
In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID patients in Manitoba are T-cell-positive. Therefore it is likely that the TREC assay will not identify these infants. The goal of this study was to blindly and retrospectively perform TREC analysis in confirmed SCID patients using archived Guthrie cards. Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). As a non-SCID patient group, 5 Primary Immunodeficiency Disease (PID) patients were studied: 1 T-negative PID (cartilage-hair hypoplasia) and 4 T-positive PID (2 common immune deficiency (CID), 1 Wiskott–Aldrich syndrome, and 1 X-linked lymphoproliferative disease). Both patient groups required hematopoietic stem cell transplantation. In addition, randomly-selected de-identified controls (n = 982) were tested. Results: all T-negative SCID and PID had zero TRECs. Low-TRECs were identified in 2 ZAP70 siblings, 1 CID patient as well as 5 preterm, 1 twin, and 4 de-identified controls. Conclusions: TREC method will identify T-negative SCID and T-negative PID. To identify other SCID babies, newborn screening in Manitoba must include supplemental targeted screening for ethnic-specific mutations. |
format |
Text |
author |
Jilkina, O. Thompson, J.R. Kwan, L. Van Caeseele, P. Rockman-Greenberg, C. Schroeder, M.L. |
author_facet |
Jilkina, O. Thompson, J.R. Kwan, L. Van Caeseele, P. Rockman-Greenberg, C. Schroeder, M.L. |
author_sort |
Jilkina, O. |
title |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
title_short |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
title_full |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
title_fullStr |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
title_full_unstemmed |
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases |
title_sort |
retrospective trec testing of newborns with severe combined immunodeficiency and other primary immunodeficiency diseases |
publisher |
Elsevier |
publishDate |
2014 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121305/ https://doi.org/10.1016/j.ymgmr.2014.07.003 |
long_lat |
ENVELOPE(158.217,158.217,-80.117,-80.117) |
geographic |
Aldrich Canada |
geographic_facet |
Aldrich Canada |
genre |
First Nations |
genre_facet |
First Nations |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121305/ http://dx.doi.org/10.1016/j.ymgmr.2014.07.003 |
op_rights |
Crown Copyright © 2014 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). |
op_rightsnorm |
CC-BY-NC-ND |
op_doi |
https://doi.org/10.1016/j.ymgmr.2014.07.003 |
container_title |
Molecular Genetics and Metabolism Reports |
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1 |
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324 |
op_container_end_page |
333 |
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1766002734059749376 |