Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
Michela Barbaro,Michela Barbaro,Annika Ohlsson,Annika Ohlsson,Stephan Borte,Susanne Jonsson,Rolf Zetterström,Rolf Zetterström,Jovanka King,Jovanka King,Jovanka King,Jacek Winiarski,Jacek Winiarski,Ulrika von Döbeln,Ulrika von Döbeln,Lennart Hammarström +15 more
TLDR
This is the first large-scale screening study with a simultaneous detection of both TREC and KREC, allowing identification of newborns with both T and B cell defects.Abstract:
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated. Sixty-four children were recalled for follow-up due to low TREC and/or KREC levels, and three patients with immunodeficiency (Artemis-SCID, ATM, and an as yet unclassified T cell lymphopenia/hypogammaglobulinemia) were identified. Of the positive samples, 24 were associated with prematurity. Thirteen children born to mothers treated with immunosuppressive agents during pregnancy (azathioprine (n = 9), mercaptopurine (n = 1), azathioprine and tacrolimus (n = 3)) showed low KREC levels at birth, which spontaneously normalized. Twenty-nine newborns had no apparent cause identified for their abnormal results, but normalized with time. Children with trisomy 21 (n = 43) showed a lower median number of both TREC (104 vs. 174 copies/μL blood) and KREC (45 vs. 100 copies/3.2 mm blood spot), but only one, born prematurely, fell below the cutoff level. Two children diagnosed with DiGeorge syndrome were found to have low TREC levels, but these were still above the cutoff level. This is the first large-scale screening study with a simultaneous detection of both TREC and KREC, allowing identification of newborns with both T and B cell defects.read more
Citations
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Journal ArticleDOI
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
TL;DR: This was an epidemiologic and retrospective observational study based on states invited to submit SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results.
Journal ArticleDOI
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice
TL;DR: The early origins of newborn screening and the evolution of screening methodologies are reviewed, the potential future role of protein-based assays, targeted sequencing, and next generation sequencing technologies are considered, including whole genome sequencing (WGS).
Journal ArticleDOI
X-Linked Agammaglobulinaemia: Outcomes in the modern era
Ben Shillitoe,Andrew R. Gennery +1 more
TL;DR: Current management and outcomes of XLA are reviewed, whilst identifying gaps in the knowledge base that may need answering before proceeding with novel diagnostic methods and treatment for XLA.
Journal ArticleDOI
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
TL;DR: Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States.
Journal ArticleDOI
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Erez Rechavi,Atar Lev,Amos J. Simon,Tali Stauber,Suha Daas,Talia Saraf-Levy,Arnon Broides,Amit Nahum,Nufar Marcus,Suhair Hanna,Polina Stepensky,Ori Toker,Ilan Dalal,Amos Etzioni,Shlomo Almashanu,Raz Somech,Raz Somech +16 more
TL;DR: A maturational step in T cell development around week 29 gestation is suggested, and moderate to late preterms should be screened with the same cutoff as term infants, as well as the high rate of FPs within this group.
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Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan,Roshini S. Abraham,Robert Currier,Amy Brower,Karen Andruszewski,Jordan K. Abbott,Mei W. Baker,Mark Ballow,Louis Bartoshesky,Francisco A. Bonilla,Charles D. Brokopp,Edward G. Brooks,Michele Caggana,Jocelyn Celestin,Joseph A. Church,Anne Marie Comeau,James A. Connelly,Morton J. Cowan,Charlotte Cunningham-Rundles,Trivikram Dasu,Nina Dave,Maria Teresa de la Morena,Ulrich A. Duffner,Chin-To Fong,Lisa R. Forbes,Lisa R. Forbes,Debra Freedenberg,Erwin W. Gelfand,Jaime E. Hale,I. Celine Hanson,I. Celine Hanson,Beverly N. Hay,Diana Hu,Anthony J. Infante,Daisy Johnson,Neena Kapoor,Denise M. Kay,Donald B. Kohn,Rachel Lee,Heather K. Lehman,Zhili Lin,Fred Lorey,Aly Abdel-Mageed,Adrienne Manning,Sean A. McGhee,Sean A. McGhee,Theodore B. Moore,Stanley J. Naides,Luigi D. Notarangelo,Jordan S. Orange,Jordan S. Orange,Sung-Yun Pai,Matthew H. Porteus,Matthew H. Porteus,Ray Rodriguez,Neil Romberg,John M. Routes,Mary Ruehle,Arye Rubenstein,Carlos A. Saavedra-Matiz,Ginger Scott,Patricia M. Scott,Elizabeth Secord,Christine M. Seroogy,William T. Shearer,William T. Shearer,Subhadra Siegel,Stacy K. Silvers,E. Richard Stiehm,Robert W. Sugerman,John L. Sullivan,Susan Tanksley,Millard L. Tierce,James W. Verbsky,Beth Vogel,Rosalyn Walker,Kelly Walkovich,Jolan E. Walter,Richard L. Wasserman,Michael S. Watson,Geoffrey A. Weinberg,Leonard B. Weiner,Heather Wood,Anne B. Yates,Jennifer M. Puck +84 more
TL;DR: Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival, and the usefulness of detection of non-SCID T-cell lymphopenia by the same screening remains to be determined.
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