![]() Experience with cultured thymus tissue in 105 children. ![]() #SEVERE COMBINED IMMUNODEFICIENCY SCID UPDATE#Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency. Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Tromborg AK, et al. SCID newborn screening: what we’ve learned. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. 2021 12:794221.īarbaro M, Ohlsson A, Borte S, Jonsson S, Zetterstrom RH, King J, et al. Implementation of universal newborn screening for severe combined immunodeficiency in Singapore while continuing routine Bacille-Calmette-Guerin Vaccination given at birth. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. ![]() Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency and t-cell lymphopenia in California, 2010–2017. UpToDate, Post TW (Ed), UpToDate, Waltham, MA.(Accessed on December 12, 2019.)Īmatuni GS, Currier RJ, Church JA, et al. Severe combined immunodeficiency (SCID): an overview. Our NBS programs followed by the diagnostic NGS analysis for newborns with abnormal TREC and/or KREC values are useful for the early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs. We performed the first large-scale TREC and TREC/KREC NBS programs in Japan. Furthermore, TREC values of 2849 newborns were measured and confirmed the significant correlation between the results of both TREC and TREC/KREC kits ( P < 0.001) and naïve T cell counts. ResultsĪ total of 145 newborns (0.11%) had abnormal TREC and/or KREC values, and a genetic diagnosis was established in 2 patients with SCID (1 in 68,742 newborns) (IL2RG-SCID and reticular dysgenesis) and 10 with non-SCID PIDs with T and/or B cell deficiencies (1 in 13,748 newborns) using NGS analysis. For newborns with positive screening results, diagnostic NGS analysis was performed with a 349-gene panel to detect genetic mutations associated with primary immunodeficiencies (PIDs). ![]() TREC and/or KREC values were measured in 137,484 newborns between April 2017 and December 2021 using EnLite TREC ( n = 80,791) or TREC/KREC kits ( n = 56,693). The aim of this study is to evaluate the usefulness of T cell receptor excision circle (TREC) and/or kappa-deleting recombination excision circle (KREC) measurements integrated with diagnostic next-generation sequencing (NGS) analysis using a severe combined immunodeficiency (SCID) newborn screening (NBS) program. ![]()
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