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Newborn screening for SCID: where are we now?

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References

  • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43
  • Watson MS, Mann M, Lloyd-Puryear MA, et al. Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8(Suppl 1):1S-252S
  • Prevention CDC. Severe combined immunodeficiency (SCID). 2014. Available from: www.cdc.gov/newbornscreening/scid.html [Cited 19 August 2014]
  • Wilson JM, Jungner YG. Principles and practice of screening for disease. Public Health Pap 1968;34:7-151
  • Bousfiha AA, Jeddane L, Ailal F, et al. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 2013;33(6):1078-87
  • Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:162
  • Hershfield MS, Buckley RH, Greenberg ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987;316(10):589-96
  • Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 2009;360(5):447-58
  • Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res 2011;49(1-3):25-43
  • 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. Lancet 2000;355(9218):1875-81
  • Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005;115(2):391-8
  • Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009;124(3):8272-9
  • Muller SM, Ege M, Pottharst A, et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 2001;98(6):1847-51
  • Notarangelo LD. Combined immunodeficiencies with nonfunctional T lymphocytes. Adv Immunol 2014;121:121-90
  • Kwan A, Church JA, Cowan MJ, 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, et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008–2011). J Clin Immunol 2012;32(1):82-8
  • Vogel BH, Bonagura V, Weinberg GA, et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014;34(3):289-303
  • Comeau AM, Hale JE, Pai SY, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis 2010;33(Suppl 2):S273-81
  • Routes JM, Grossman WJ, Verbsky J, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009;302(22):2465-70
  • 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(7):729-38
  • Accetta DJ, Brokopp CD, Baker MW, et al. Cause of death in neonates with inconclusive or abnormal T-cell receptor excision circle assays on newborn screening. J Clin Immunol 2011;31(6):962-7
  • 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 2011;127(2):535-8. e1-2
  • Hale JE, Bonilla FA, Pai SY, et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol 2010;126(5):1073-4
  • Chien Y, Chiang S, Chang K, et al. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. J Formos Med Assoc 2013. [Epub ahead of print]
  • Puck JM. The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci 2011;1246:108-17
  • Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol 2011;128(6):1375-6
  • Lingman Framme J, Borte S, von Dobeln U, et al. Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome. J Clin Immunol 2014;34(4):514-19
  • Grazioli S, Bennett M, Hildebrand KJ, et al. Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency. Clin Immunol 2014;153(1):209-10
  • Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol 2012;129(3):597-604. quiz 5–6
  • Lev A, Simon AJ, Broides A, et al. Thymic function in MHC class II-deficient patients. J Allergy Clin Immunol 2013;131(3):831-9
  • Roifman CM, Somech R, Kavadas F, et al. Defining combined immunodeficiency. J Allergy Clin Immunol 2012;130(1):177-83
  • la Marca G, Canessa C, Giocaliere E, 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
  • Mallott J, Kwan A, Church J, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol 2013;33(3):540-9
  • Banks MJ, Benchot RJ. Unique aspects of nursing care for Amish children. MCN Am J Matern Child Nurs 2001;26(4):192-6
  • Adams CE, Leverland MB. The effects of religious beliefs on the health care practices of the Amish. Nurse Pract 1986;11(3):58, 63, 67
  • Brewer JA, Bonalumi NM. Health care beliefs and practices among the Pennsylvania Amish. J Emerg Nurs 1995;21(6):494-7
  • Weyer SM, Hustey VR, Rathbun L, et al. A look into the Amish culture: what should we learn? J Transcult Nurs 2003;14(2):139-45
  • Turoldo F. Ethics of responsibility in a multicultural context. Perspect Biol Med 2010;53(2):174-85
  • 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 Genomics 2010;42A(1):52-60
  • Borte S, von Dobeln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012;119(11):2552-5
  • Siminovitch KA, Bakhshi A, Goldman P, et al. A uniform deleting element mediates the loss of kappa genes in human B cells. Nature 1985;316(6025):260-2
  • Nakagawa N, Imai K, Kanegane H, et al. Quantification of kappa-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 2011;128(1):223-5.e2
  • Byun M, Abhyankar A, Lelarge V, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010;207(11):2307-12
  • Bolze A, Byun M, McDonald D, et al. Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 2010;87(6):873-81
  • Ghosh S, Krux F, Binder V, et al. Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies. Scand J Immunol 2012;75(3):350-4

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