56
Views
8
CrossRef citations to date
0
Altmetric
Perspective

Screening newborns for primary T-cell immunodeficiencies: consensus and controversy

, &
Pages 761-768 | Published online: 10 Jan 2014

References

  • Baker MW, Grossman WJ, Laessig RH et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J. Allergy Clin. Immunol.124(3), 522–527 (2009).
  • Routes JM, Grossman WJ, Verbsky J et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA302(22), 2465–2470 (2009).
  • Hale JE, Bonilla FA, Pai SY et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J. Allergy Clin. Immunol.126(5), 1073–1074 (2010).
  • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics32, 338–343 (1963).
  • Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. WHO, Geneva, Switzerland (1968).
  • Fleischman AR, Lin BK, Howse JL. A commentary on the President’s Council on Bioethics report: the changing moral focus of newborn screening. Genet. Med.11(7), 507–509 (2009).
  • Andermann A, Blancquaert I, Beauchamp S, Dery V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull. World Health Organ.86(4), 317–319 (2008).
  • Newborn screening: toward a uniform screening panel and system. Genet. Med.8(Suppl. 1), 1S–252S (2006).
  • Andermann A, Blancquaert I, Beauchamp S, Costea I. Guiding policy decisions for genetic screening: developing a systematic and transparent approach. Public Health Genomics14(1), 9–16 (2011).
  • Bales AM, Zaleski CA, McPherson EW. Newborn screening programs: should 22q11 deletion syndrome be added? Genet. Med.12(3), 135–144 (2010).
  • Kharrazi M, Hyde T, Young S, Amin MM, Cannon MJ, Dollard SC. Use of screening dried blood spots for estimation of prevalence, risk factors, and birth outcomes of congenital cytomegalovirus infection. J. Pediatr.157(2), 191–197 (2010).
  • Buckley RH, Schiff SE, Schiff RI et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med.340(7), 508–516 (1999).
  • Fischer A, Notarangelo LD. Combined immunodeficiencies. In: Immunologic Disorders in Infants and Children. Stiehm ER, Ochs HD, Winkelstein JA (Eds). Elsevier, Philadelphia, PA, USA, 447 (2004).
  • Kalman L, Lindegren ML, Kobrynski L et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet. Med.6(1), 16–26 (2004).
  • Kaye CI, Committee on Genetics, Accurso F et al. Newborn screening fact sheets. Pediatrics118(3), e934–e963 (2006).
  • Lindegren ML, Kobrynski L, Rasmussen SA et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm. Rep.53(RR-1), 1–29 (2004).
  • Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood99(3), 872–878 (2002).
  • Stephan JL, Vlekova V, Le Deist F et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr.123(4), 564–572 (1993).
  • Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu. Rev. Immunol.22, 625–655 (2004).
  • Adeli MM, Buckley RH. Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics126(2), e465–e469 (2010).
  • Cortese MM, Parashar UD, Centers for Disease Control and Prevention (CDC). Prevention of rotavirus gastroenteritis among infants and children: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm. Rep.58(RR-2), 1–25 (2009).
  • Patel NC, Hertel PM, Estes MK et al. Vaccine-acquired rotavirus in infants with severe combined immunodeficiency. N. Engl. J. Med.362(4), 314–319 (2010).
  • Werther RL, Crawford NW, Boniface K, Kirkwood CD, Smart JM. Rotavirus vaccine induced diarrhea in a child with severe combined immune deficiency. J. Allergy Clin. Immunol.124(3), 600 (2009).
  • Uygungil B, Bleesing JJ, Risma KA, McNeal MM, Rothenberg ME. Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: a reason to screen. J. Allergy Clin. Immunol.125(1), 270–271 (2010).
  • Chan B, Wara D, Bastian J et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin. Immunol.117(2), 133–143 (2005).
  • Aiuti A, Cattaneo F, Galimberti S et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med.360(5), 447–458 (2009).
  • Hacein-Bey-Abina S, Hauer J, Lim A et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med.363(4), 355–364 (2010).
  • Hacein-Bey-Abina S, Garrigue A, Wang GP et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest.118(9), 3132–3142 (2008).
  • Hacein-Bey-Abina S, Le Deist F, Carlier F et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med.346(16), 1185–1193 (2002).
  • Puck JM. Neonatal screening for severe combined immune deficiency. Curr. Opin. Allergy Clin. Immunol.7(6), 522–527 (2007).
  • Lipstein EA, Vorono S, Browning MF et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics125(5), e1226–e1235 (2010).
  • Puck JM. SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J. Allergy Clin. Immunol.120(4), 760–768 (2007).
  • Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol.115(2), 391–398 (2005).
  • Chabra S, Cottrill C, Rayens MK, Cross R, Lipke D, Bruce M. Lymphocyte subsets in cord blood of preterm infants: effect of antenatal steroids. Biol. Neonate74(3), 200–207 (1998).
  • Verschuren MC, Wolvers-Tettero IL, Breit TM, Noordzij J, van Wering ER, van Dongen JJ. Preferential rearrangements of the T cell receptor-δ-deleting elements in human T cells. J. Immunol.158(3), 1208–1216 (1997).
  • Douek DC, Vescio RA, Betts MR et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet355(9218), 1875–1881 (2000).
  • Morinishi Y, Imai K, Nakagawa N et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr.155(6), 829–833 (2009).
  • McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J. Pediatr.147(5), 603–608 (2005).
  • Accetta D, Syverson G, Bonacci B et al. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J. Allergy Clin. Immunol.127(2), 535–538, e1–e2 (2011).
  • Ambruso DR, Knall C, Abell AN et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc. Natl Acad. Sci. USA97(9), 4654–4659 (2000).
  • Fernhoff PM. Duarte galactosemia: how sweet is it? Clin. Chem.56(7), 1045–1046 (2010).
  • Antoine C, Muller S, Cant A et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–1999. Lancet361(9357), 553–560 (2003).
  • Ross JS, Normand SL, Wang Y et al. Hospital volume and 30-day mortality for three common medical conditions. N. Engl. J. Med.362(12), 1110–1118 (2010).
  • Ayanian JZ, Landrum MB, Guadagnoli E, Gaccione P. Specialty of ambulatory care physicians and mortality among elderly patients after myocardial infarction. N. Engl. J. Med.347(21), 1678–1686 (2002).
  • Birkmeyer JD, Siewers AE, Finlayson EV et al. Hospital volume and surgical mortality in the United States. N. Engl. J. Med.346(15), 1128–1137 (2002).
  • Tu JV, Austin PC, Chan BT. Relationship between annual volume of patients treated by admitting physician and mortality after acute myocardial infarction. JAMA285(24), 3116–3122 (2001).
  • Casale PN, Jones JL, Wolf FE, Pei Y, Eby LM. Patients treated by cardiologists have a lower in-hospital mortality for acute myocardial infarction. J. Am. Coll. Cardiol.32(4), 885–889 (1998).
  • Harrell H. Currents in contemporary ethics: the role of parents in expanded newborn screening. J. Law Med. Ethics37(4), 846–851 (2009).
  • Atkinson K, Zuckerman B, Sharfstein JM, Levin D, Blatt RJ, Koh HK. A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep.116(2), 122–131 (2001).
  • Lipstein EA, Nabi E, Perrin JM, Luff D, Browning MF, Kuhlthau KA. Parents’ decision-making in newborn screening: opinions, choices, and information needs. Pediatrics126(4), 696–704 (2010).
  • Couzin-Frankel J. Newborn blood collections. Science gold mine, ethical minefield. Science324(5924), 166–168 (2009).
  • Mandl KD, Feit S, Larson C, Kohane IS. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics109(2), 269–273 (2002).
  • Tarini BA, Goldenberg A, Singer D, Clark SJ, Butchart A, Davis MM. Not without my permission: parents’ willingness to permit use of newborn screening samples for research. Public Health Genomics13(3), 125–130 (2010).
  • Ortolon K. Blood feud: controversy arises over newborn screening program. Tex. Med.105(7), 47–49 (2009).
  • Botkin JR, Anderson R, Staes C, Longo N. Developing a National Registry for conditions identifiable through newborn screening. Genet. Med.11(3), 176–182 (2009).
  • Tomita-Mitchell A, Mahnke DK, Larson JM et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol. Genomics42A(1), 52–60 (2010).
  • Tarini BA, Singer D, Clark SJ, Davis MM. Parents’ interest in predictive genetic testing for their children when a disease has no treatment. Pediatrics124(3), e432–e438 (2009).
  • Sottini A, Ghidini C, Zanotti C et al. Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Clin. Immunol.136(2), 217–227 (2010).
  • Clayton EW. Ethical, legal, and social implications of genomic medicine. N. Engl. J. Med.349(6), 562–569 (2003).

Websites

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.