Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
Tóm tắt
Từ khóa
Tài liệu tham khảo
Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2011;117(11):3243–6.
Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:1–26.
Douek DC, Vescio RA, Betts MR, Brenchley JM, Hill BJ, Zhang L, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet. 2000;355:1875–81.
Chan K, Puck J. Development of population-based screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391–8.
Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124(3):522–7.
Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302(22):2465–70.
Gerstel-Thompson JL, Wilkey JF, Baptiste JC, Navas JS, Pai SY, Pass KA, et al. High-throughput multiplexed T-cell–receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening. Clin Chem. 2010;56(9):1466–74.
McGhee SA, Stiehm ER, Cowan M, Krogstad P, McCabe ERB. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol Gen Met. 2005;86:427–30.
Horn B, Cowan MJ. Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects. J Allergy Clin Immunol. 2013;131(5):1306–11.
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn D, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140–50.
Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008–2011). J Clin Immunol. 2012;32(1):82–8.
Live Births in England and Wales by Characteristics of Birth, 2010. Office for National Statistics. 2011;1–9.
Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr. 2009;155(6):829–33.
La Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, et al. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. J Allergy Clin Immunol. 2013;131(6):1604–10.
Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Newborn screening for severe combined immunodeficiency. Rockville: Health Resources and Services Administration; 2011. Available from: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/correspondence/combinedimmunodeficiency.pdf .