A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay
Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is bei...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2017-11-01
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| Series: | Frontiers in Immunology |
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| Online Access: | http://journal.frontiersin.org/article/10.3389/fimmu.2017.01470/full |
| _version_ | 1819161246615732224 |
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| author | Monica S. Thakar Mary K. Hintermeyer Miranda G. Gries John M. Routes James W. Verbsky |
| author_facet | Monica S. Thakar Mary K. Hintermeyer Miranda G. Gries John M. Routes James W. Verbsky |
| author_sort | Monica S. Thakar |
| collection | DOAJ |
| description | Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur. In addition, the TREC can also assay detect infants with T cell lymphopenia who are not severe enough to be considered SCID; management of these infants is also evolving. |
| first_indexed | 2024-12-22T17:09:18Z |
| format | Article |
| id | doaj.art-c084780a96274d5bbd10aa8d39a9a5ce |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-22T17:09:18Z |
| publishDate | 2017-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-c084780a96274d5bbd10aa8d39a9a5ce2022-12-21T18:19:06ZengFrontiers Media S.A.Frontiers in Immunology1664-32242017-11-01810.3389/fimmu.2017.01470280186A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle AssayMonica S. Thakar0Mary K. Hintermeyer1Miranda G. Gries2John M. Routes3James W. Verbsky4Department of Pediatrics, Divisions of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, United StatesChildren’s Hospital of Wisconsin, Milwaukee, WI, United StatesDepartment of Pediatrics, Divisions of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, United StatesDepartment of Pediatrics, Division of Allergy and Clinical Immunology, Medical College of Wisconsin, Milwaukee, WI, United StatesDepartment of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee, WI, United StatesSevere combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur. In addition, the TREC can also assay detect infants with T cell lymphopenia who are not severe enough to be considered SCID; management of these infants is also evolving.http://journal.frontiersin.org/article/10.3389/fimmu.2017.01470/fullsevere combined immunodeficiencyT cell receptor excision circlesnewborn screeningbone marrow transplantationantibiotic prophylaxis |
| spellingShingle | Monica S. Thakar Mary K. Hintermeyer Miranda G. Gries John M. Routes James W. Verbsky A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay Frontiers in Immunology severe combined immunodeficiency T cell receptor excision circles newborn screening bone marrow transplantation antibiotic prophylaxis |
| title | A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay |
| title_full | A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay |
| title_fullStr | A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay |
| title_full_unstemmed | A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay |
| title_short | A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay |
| title_sort | practical approach to newborn screening for severe combined immunodeficiency using the t cell receptor excision circle assay |
| topic | severe combined immunodeficiency T cell receptor excision circles newborn screening bone marrow transplantation antibiotic prophylaxis |
| url | http://journal.frontiersin.org/article/10.3389/fimmu.2017.01470/full |
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