메뉴 건너뛰기




Volumn 56, Issue 9, 2010, Pages 1466-1474

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 77956384499     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2010.144915     Document Type: Article
Times cited : (75)

References (17)
  • 1
    • 0034597508 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases due to defects in lymphocytes
    • Buckley RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 2000;343:1313-24.
    • (2000) N Engl J Med , vol.343 , pp. 1313-1324
    • Buckley, R.H.1
  • 2
    • 71449120471 scopus 로고    scopus 로고
    • Primary immunodeficiencies: 2009 update
    • International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies
    • International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009;124: 1161-78.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1161-1178
    • Notarangelo, L.D.1    Fischer, A.2    Geha, R.S.3    Casanova, J.L.4    Chapel, H.5
  • 3
    • 2542461255 scopus 로고    scopus 로고
    • Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
    • Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004; 22:625-55.
    • (2004) Annu Rev Immunol , vol.22 , pp. 625-655
    • Buckley, R.H.1
  • 4
    • 1242264767 scopus 로고    scopus 로고
    • Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders
    • Centers for Disease Control and Prevention.
    • Centers for Disease Control and Prevention. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm Rep 2004;53: 1-29.
    • (2004) MMWR Recomm Rep , vol.53 , pp. 1-29
  • 5
    • 34948870078 scopus 로고    scopus 로고
    • Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation
    • SCID Newborn Screening Working Group.
    • Puck JM and SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol 2007; 120:760-8.
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 760-768
    • Puck, J.M.1
  • 6
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system
    • Watson MS, Mann, MY, Lloyd-Puryear MA, Rinaldo, P. Newborn screening: toward a uniform screening panel and system. Genet Med 2006; (Suppl 1):1S-252.
    • (2006) Genet Med , Issue.SUPPL. 1
    • Watson, M.S.1    Mann, M.Y.2    Lloyd-Puryear, M.A.3    Rinaldo, P.4
  • 7
    • 77956385928 scopus 로고    scopus 로고
    • Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Accessed July 2010
    • Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Minutes, 13th meeting. http://www.hrsa.gov/ heritabledisorderscommittee/meetings/2008january/minutes0108.htm (Accessed July 2010).
    • Minutes, 13th Meeting
  • 8
    • 77956373358 scopus 로고    scopus 로고
    • Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Accessed July 2010
    • Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. 20th meeting. http://www.hrsa.gov/heritabledisorders committee/meetings/2010january (Accessed July 2010).
    • 20th Meeting
  • 9
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • DOI 10.1016/j.jaci.2004.10.012
    • Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005; 115:391-8. (Pubitemid 40215109)
    • (2005) Journal of Allergy and Clinical Immunology , vol.115 , Issue.2 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 11
    • 0035885937 scopus 로고    scopus 로고
    • Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: A study of 121 patients
    • Muller SM, Ege M, Pottharst A, Schultz AS, Schwartz K, Friedrich W. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 2001;98:1847-51.
    • (2001) Blood , vol.98 , pp. 1847-1851
    • Muller, S.M.1    Ege, M.2    Pottharst, A.3    Schultz, A.S.4    Schwartz, K.5    Friedrich, W.6
  • 13
    • 79952199261 scopus 로고    scopus 로고
    • Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
    • Epub ahead of print May 20
    • Comeau AM, Hale JE, Pai S-Y, Bonilla FA, Notarangelo LD, Pasternack MS, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis. [Epub ahead of print 2010 May 20].
    • (2010) J Inherit Metab Dis
    • Comeau, A.M.1    Hale, J.E.2    Pai, S.-Y.3    Bonilla, F.A.4    Notarangelo, L.D.5    Pasternack, M.S.6
  • 14
    • 77956385838 scopus 로고    scopus 로고
    • A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease
    • Janik DK, Lindau-Shepard B, Comeau AM, Pass KA. A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease. Clin Chem 2010;56:1460-65.
    • (2010) Clin Chem , vol.56 , pp. 1460-1465
    • Janik, D.K.1    Lindau-Shepard, B.2    Comeau, A.M.3    Pass, K.A.4
  • 15
    • 0035016950 scopus 로고    scopus 로고
    • Use of filter paper for collection and analysis of human whole blood specimens
    • Mei JV, Alexander JR, Adam BW, Hannon WH. Use of filter paper for collection and analysis of human whole blood specimens. J Nutr 2001;131: 1631S-6S.
    • (2001) J Nutr , vol.131
    • Mei, J.V.1    Alexander, J.R.2    Adam, B.W.3    Hannon, W.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.