Yao C, Han X, Zhang Y, Zhang H, Jin Y, Cao R, et al. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004–2011). J Clin Immunol. 2013;33:526–39.
Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378–87.
Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013;33:1156–64.
Pai S, Logan B, Griffith L, Buckley R, Parrott R, Dvorak C, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371:434–46.
Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115:391–8.
Serana F, Chiarini M, Zanotti C, Sottini A, Bertoli D, Bosio A, et al. Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. J Transl Med. 2013;11:119.
Modell V, Knaus M, Modell F. An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia. Immunol Res. 2014;60:145–52.
Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab. 2011;104:383–9.
Borte S, von Dobeln U, Hammarstrom L. Guidelines for newborn screening of primary immunodeficiency diseases. Curr Opin Hematol. 2013;20:48–54.
Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302:2465–70.
Newborn Screening for Severe Combined Immunodeficiency Disorder. Secretary’s Advisory Committee on Heritable Disorders in Newborns. 2011; Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/correspondence/combinedimmunodeficiency.pdf.
Audrain M, Thomas C, Mirallie S, Bourgeois N, Sebille V, Rabetrano H, et al. Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study. Clin Immunol. 2014;150:137–9.
Borte S, von Dobeln U, Fasth A, Wang N, Janzi M, Winiarski J, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119:2552–5.
Kanegae M, Bellesi N, Dos Santos AMN, Costa-Carvalho BT, Holanda SM, Genov IR, et al. Establishment of newborn screening for scid/severe T lymphocytopenia in Sao Paulo. J Clin Immunol. 2014;34:392.
Azzari C, la Marca G, Resti M. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J Allergy Clin Immunol. 2011;127:1394–9.
Adams SP, Rashid S, Premachandra T, Harvey K, Ifederu A, Wilson MC, et al. Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol. 2014;34:323–30.
Cross C. Ontario newborns now screened for SCID. CMAJ. 2013;185:E616–E4580.
Svaton M, Sediva A, Mejstrikova E, Keslova P, Vinohradska H, Votava F, et al. Differential diagnostics of immunodeficiency using antigen receptor excision circles in neonatal screening cards and in postnatal peripheral blood. Orv Hetil. 2012;153:42.
Seidel M, Kasper D, Fischer G, Wintergerst U, Schwinger W, Mann G, et al. Newborn screening for lymphopenia and severe combined immunodeficiencies (SCID)-current state and proposal for an Austrian initiative to reduce morbidity and mortality from congenital risk of severe infections. Monatsschr Kinderheilkd. 2011;159:330.
Somech R, Etzioni A. A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med J. 2014;5:e0001.
Fazlollahi MR, Pesaran Haji Abbas F, Houshmand M, Safaee S, Hamidieh AA, Movahedi M, et al. Clinical and genetic index of 37 patients with severe combined immunodeficiency, from iran (2005–2012). Iran J Allergy Asthma Immunol. 2013;12:S41.
Chase NM, Verbsky JW, Routes JM. Newborn screening for SCID: three years of experience. Ann N Y Acad Sci. 2011;1238:99–105.
Moher D. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 2009;6:1.
Shearer W, Dunn E, Notarangelo L, Dvorak C, Puck J, Logan B, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133:1092–8.
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;32:82–8.
Chien Y-H, Chiang S-C, Chang K-L, Yu H-H, Lee W-I, Tsai L-P, et al. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. J Formos Med Assoc. 2015;114:12-6. doi:10.1016/j.jfma.2012.10.020.
Bossuyt P, Reitsma J, Bruns D, Gatsonis C, Glasziou P, Irwig L, et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Standards for Reporting of Diagnostic Accuracy. Clin Chem. 2003;49:1–6.
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;131:1604–10.
Somech R, Lev A, Simon AJ, Korn D, Garty BZ, Amariglio N, et al. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. Isr Med Assoc J. 2013;15:404–9.
Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33:540–9.
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;155:829–33.
Lingman Framme J, Borte S, Von Dobeln U, Hammarstrom L, Oskarsdottir S. Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome. J Clin Immunol. 2014;34:514–9.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, Diantonio L, et al. Newborn screening for SCID in New York State: Experience from the first two years. J Clin Immunol. 2014;34:289–303.
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, 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;132:140–50.
Caggana, M. National SCID Pilot Study. 2011. Available at: https://www.nbstrn.org/sites/default/files/Statement%20of%20Work%20for%20National%20SCID%20Pilot%20Study.pdf
Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the united states. JAMA. 2014;312:729–38.
Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, et al. Quantification of Ã Â°-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128:223–225.e2.
van Zelm M, Szczepanski T, van der Burg M, van Dongen JJM. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med. 2007;204:645–55.
Borte S, Puck J, Lorey F, McGhee SA, Hershfield MS, Fasth A, et al. KRECs but not trecs identify patients with delayed-onset adenosine deaminase (ADA) deficiency in neonatal screening. J Clin Immunol. 2013;33:673.
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;56:1466–74.
Comeau AM, Hale JE, Pai SY, Bonilla FA, Notarangelo LD, Pasternack MS, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis. 2010;33:S273–81
Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002;168:6323–9.
McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr. 2005;147:603–8.
Yeganeh M, Heidarzade M, Pourpak Z, Parvaneh N, Rezaei N, Gharagozlou M, et al. Severe combined immunodeficiency: a cohort of 40 patients. Pediatr Allergy Immunol. 2008;19:303–6.
Adeli M, Al-Yafei F. Neonatal screenings; critical in detecting familial backgrounds in immunodeficiency diseases: A middle-eastern population case report. J Clin Immunol. 2014;34:352.
Pourpak Z. Stepwise approach to primary immunodeficiency diagnosis. Iran J Allergy Asthma Immunol. 2013;12:S36.
Bonagura VR, DeVoti J, Massaro L, Sharif N, Isabelle J, Caggana M. Simultaneous detection of trecs and krecs in newborn dna isolated from dried blood spots (guthrie cards). J Allergy Clin Immunol. 2012;129:AB138.
Verstegen RH, Borte S, Bok LA, van Zwieten PH, von Dobeln U, Hammarstrom L, et al. Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. J Allergy Clin Immunol. 2014;133:1208–11.
Kraus M, Lev A, Simon AJ, Levran I, Nissenkorn A, Levi YB, et al. Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. J Clin Immunol. 2014;34:561–72.
Plebani A, Soresina A, Rondelli R, Amato G, Azzari C, Cardinale F, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002;104:221–30.