Flow Cytometry Confirmation Post Newborn Screening for SCID in England

被引:1
作者
Gilmour, Kimberly C. [1 ]
机构
[1] Hosp Children NHS Fdn Trust, Camelia Botnar Labs, Immunol Lab, Great Ormond St, London WC1N 3JH, England
关键词
severe combined immunodeficiency; TREC; flow cytometry; T cells; SEVERE COMBINED IMMUNODEFICIENCY;
D O I
10.3390/ijns8010001
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
An evaluation program for newborn screening for Severe Combined Immunodeficiency began in England in September 2021 based on TREC analysis. Flow cytometry is being used as the follow up diagnostic test for patients with low/absent TRECS. The immunology laboratories have established a protocol and values for diagnosing SCID, other T lymphopenias and identifying healthy babies. This commentary describes the flow cytometry approach used in England to define SCID, T lymphopenia and normal infants after a low TREC result. It provides background to the flow cytometry assays being used and discusses the need to monitor and potentially change these values over time.
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共 8 条
[1]   A comparison of TRECs and flow cytometry for naive T cell quantification [J].
Adams, S. P. ;
Kricke, S. ;
Ralph, E. ;
Gilmour, N. ;
Gilmour, K. C. .
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2018, 191 (02) :198-202
[2]   Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017 [J].
Amatuni, George S. ;
Currier, Robert J. ;
Church, Joseph A. ;
Bishop, Tracey ;
Grimbacher, Elena ;
Nguyen, Alan Anh-Chuong ;
Agarwal-Hashmi, Rajni ;
Aznar, Constantino P. ;
Butte, Manish J. ;
Cowan, Morton J. ;
Dorsey, Morna J. ;
Dvorak, Christopher C. ;
Kapoor, Neena ;
Kohn, Donald B. ;
Markert, M. Louise ;
Moore, Theodore B. ;
Naides, Stanley J. ;
Sciortino, Stanley ;
Feuchtbaum, Lisa ;
Koupaei, Rasoul A. ;
Puck, Jennifer M. .
PEDIATRICS, 2019, 143 (02)
[3]   First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) [J].
Argudo-Ramirez, Ana ;
Martin-Nalda, Andrea ;
Marin-Soria, Jose L. ;
Lopez-Galera, Rosa M. ;
Pajares-Garcia, Sonia ;
Gonzalez de Aledo-Castillo, Jose M. ;
Martinez-Gallo, Monica ;
Garcia-Prat, Marina ;
Colobran, Roger ;
Riviere, Jacques G. ;
Quintero, Yania ;
Collado, Tatiana ;
Garcia-Villoria, Judit ;
Ribes, Antonia ;
Soler-Palacin, Pere .
FRONTIERS IN IMMUNOLOGY, 2019, 10
[4]   Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening [J].
Brown, Lucinda ;
Xu-Bayford, Jinhua ;
Allwood, Zoe ;
Slatter, Mary ;
Cant, Andrew ;
Davies, E. Graham ;
Veys, Paul ;
Gennery, Andrew R. ;
Gaspar, H. Bobby .
BLOOD, 2011, 117 (11) :3243-3246
[5]   Immunophenotyping of blood lymphocytes in childhood - Reference values for lymphocyte subpopulations [J].
ComansBitter, WM ;
deGroot, R ;
vandenBeemd, R ;
Neijens, HJ ;
Hop, WCJ ;
Groeneveld, K ;
Hooijkaas, H ;
vanDongen, JJM .
JOURNAL OF PEDIATRICS, 1997, 130 (03) :388-393
[6]   Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices [J].
Knight, Vijaya ;
Heimall, Jennifer R. ;
Wright, Nicola ;
Dutmer, Cullen M. ;
Boyce, Thomas G. ;
Torgerson, Troy R. ;
Abraham, Roshini S. .
INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (03)
[7]   Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States [J].
Kwan, Antonia ;
Abraham, Roshini S. ;
Currier, Robert ;
Brower, Amy ;
Andruszewski, Karen ;
Abbott, Jordan K. ;
Baker, Mei ;
Ballow, Mark ;
Bartoshesky, Louis E. ;
Bonilla, Francisco A. ;
Brokopp, Charles ;
Brooks, Edward ;
Caggana, Michele ;
Celestin, Jocelyn ;
Church, Joseph A. ;
Comeau, Anne Marie ;
Connelly, James A. ;
Cowan, Morton J. ;
Cunningham-Rundles, Charlotte ;
Dasu, Trivikram ;
Dave, Nina ;
De La Morena, Maria T. ;
Duffner, Ulrich ;
Fong, Chin-To ;
Forbes, Lisa ;
Freedenberg, Debra ;
Gelfand, Erwin W. ;
Hale, Jaime E. ;
Hanson, I. Celine ;
Hay, Beverly N. ;
Hu, Diana ;
Infante, Anthony ;
Johnson, Daisy ;
Kapoor, Neena ;
Kay, Denise M. ;
Kohn, Donald B. ;
Lee, Rachel ;
Lehman, Heather ;
Lin, Zhili ;
Lorey, Fred ;
Abdel-Mageed, Aly ;
Manning, Adrienne ;
McGhee, Sean ;
Moore, Theodore B. ;
Naides, Stanley J. ;
Notarangelo, Luigi D. ;
Orange, Jordan S. ;
Pai, Sung-Yun ;
Porteus, Matthew ;
Rodriguez, Ray .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 312 (07) :729-738
[8]   Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience [J].
Shearer, William T. ;
Dunn, Elizabeth ;
Notarangelo, Luigi D. ;
Dvorak, Christopher C. ;
Puck, Jennifer M. ;
Logan, Brent R. ;
Griffith, Linda M. ;
Kohn, Donald B. ;
O'Reilly, Richard J. ;
Fleisher, Thomas A. ;
Pai, Sung-Yun ;
Martinez, Caridad A. ;
Buckley, Rebecca H. ;
Cowan, Morton J. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (04) :1092-1098