Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
| Autor: | Luvinia Kwan, J.R. Thompson, Cheryl Rockman-Greenberg, P. Van Caeseele, O. Jilkina, Marlis L. Schroeder |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Oncology
medicine.medical_specialty XLP X-linked lymphoproliferative disease medicine.medical_treatment Population PID Primary Immunodeficiency Disease Disease Hematopoietic stem cell transplantation Archived Guthrie cards Endocrinology WAS Wiskott–Aldrich syndrome Dried blood spots NENSP New England Newborn Screening Program NICU neonatal intensive care unit ZAP70 zeta chain-associated protein kinase Internal medicine IKKβ inhibitor of kappa light polypeptide gene enhancer in B-cells kinase beta Genetics medicine CID common immune deficiency SCID Severe Combined Immunodeficiency education lcsh:QH301-705.5 Molecular Biology T-cell receptor excision circle lcsh:R5-920 DBS dried blood spots education.field_of_study Newborn screening Severe combined immunodeficiency ADA adenosine deaminase deficiency T-cell receptor excision circles business.industry HSCT hematopoietic stem cell transplant TREC T-cell receptor excision circle CPL Cadham Provincial Laboratory medicine.disease Adenosine deaminase deficiency FNMI First Nations Metis and Inuit lcsh:Biology (General) CHH cartilage–hair hypoplasia T-cell positive primary immunodeficiency Immunology Primary immunodeficiency Severe Combined Immunodeficiency lcsh:Medicine (General) business Newborn Screening |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 324-333 (2014) |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2014.07.003 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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