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Volumn 3, Issue 3, 2017, Pages

Newborn screening for primary immunodeficiency diseases: The past, the present and the future

Author keywords

KREC; Newborn screening; Next generation sequencing; Primary immunodeficiency diseases; TREC

Indexed keywords


EID: 85039036458     PISSN: None     EISSN: 2409515X     Source Type: Journal    
DOI: 10.3390/ijns3030019     Document Type: Review
Times cited : (17)

References (37)
  • 3
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie, R.; Susi, A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32, 338-343. [PubMed]
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 7
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • CrossRef PubMed
    • Chan, K.; Puck, J.M. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2005, 115, 391-398. [CrossRef] [PubMed]
    • (2005) J. Allergy Clin. Immunol. , vol.115 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 8
    • 85039068283 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in the US: Current status and approach to management
    • Dorsey, M.; Puck, J. Newborn screening for severe combined immunodeficiency in the US: Current status and approach to management. Int. J. Neonatal Screen. 2017, 3, 15. [CrossRef]
    • (2017) Int. J. Neonatal Screen. , vol.3 , pp. 15
    • Dorsey, M.1    Puck, J.2
  • 11
    • 85019268862 scopus 로고    scopus 로고
    • An evaluation of the TREC assay with regard to the integration of scid screening into the Dutch newborn screening program
    • CrossRef PubMed
    • Blom, M.; Pico-Knijnenburg, I.; Sijne-van Veen, M.; Boelen, A.; Bredius, R.G.M.; van der Burg, M.; Schielen, P.C.J.I. An evaluation of the trec assay with regard to the integration of scid screening into the Dutch newborn screening program. Clin. Immunol. 2017, 180, 106-110. [CrossRef] [PubMed]
    • (2017) Clin. Immunol. , vol.180 , pp. 106-110
    • Blom, M.1    Pico-Knijnenburg, I.2    Sijne-Van Veen, M.3    Boelen, A.4    Bredius, R.G.M.5    Van Der Burg, M.6    Schielen, P.C.J.I.7
  • 12
    • 84891899409 scopus 로고    scopus 로고
    • 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
    • CrossRef PubMed
    • Audrain, M.; Thomas, C.; Mirallie, S.; Bourgeois, N.; Sebille, V.; Rabetrano, H.; Durand-Zaleski, I.; Boisson, R.; Persyn, M.; Pierres, C.; 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, 137-139. [CrossRef] [PubMed]
    • (2014) Clin. Immunol. , vol.150 , pp. 137-139
    • Audrain, M.1    Thomas, C.2    Mirallie, S.3    Bourgeois, N.4    Sebille, V.5    Rabetrano, H.6    Durand-Zaleski, I.7    Boisson, R.8    Persyn, M.9    Pierres, C.10
  • 15
    • 79959819541 scopus 로고    scopus 로고
    • Quantification of kappa-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects
    • CrossRef PubMed
    • Nakagawa, N.; Imai, K.; Kanegane, H.; Sato, H.; Yamada, M.; Kondoh, K.; Okada, S.; Kobayashi, M.; Agematsu, K.; Takada, 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, 223-225. [CrossRef] [PubMed]
    • (2011) J. Allergy Clin. Immunol. , vol.128 , pp. 223-225
    • Nakagawa, N.1    Imai, K.2    Kanegane, H.3    Sato, H.4    Yamada, M.5    Kondoh, K.6    Okada, S.7    Kobayashi, M.8    Agematsu, K.9    Takada, H.10
  • 17
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • Bruton, O.C. Agammaglobulinemia. Pediatrics 1952, 9, 722-728. [PubMed]
    • (1952) Pediatrics , vol.9 , pp. 722-728
    • Bruton, O.C.1
  • 18
    • 78651059120 scopus 로고
    • Agammaglobulinemia (congenital absence of gamma globulin); report of a case
    • Bruton, O.C. Agammaglobulinemia (congenital absence of gamma globulin); report of a case. Med. Ann. Dist. Columbia 1953, 22, 648-650. [PubMed]
    • (1953) Med. Ann. Dist. Columbia , vol.22 , pp. 648-650
    • Bruton, O.C.1
  • 20
    • 84948581722 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015
    • CrossRef PubMed
    • Picard, C.; Al-Herz, W.; Bousfiha, A.; Casanova, J.L.; Chatila, T.; Conley, M.E.; Cunningham-Rundles, C.; Etzioni, A.; Holland, S.M.; Klein, C.; et al. Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J. Clin. Immunol. 2015, 35, 696-726. [CrossRef] [PubMed]
    • (2015) J. Clin. Immunol. , vol.35 , pp. 696-726
    • Picard, C.1    Al-Herz, W.2    Bousfiha, A.3    Casanova, J.L.4    Chatila, T.5    Conley, M.E.6    Cunningham-Rundles, C.7    Etzioni, A.8    Holland, S.M.9    Klein, C.10
  • 21
    • 84901001127 scopus 로고    scopus 로고
    • Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency
    • CrossRef PubMed
    • Grazioli, S.; Bennett, M.; Hildebrand, K.J.; Vallance, H.; Turvey, S.E.; Junker, A.K. Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency. Clin. Immunol. 2014, 153, 209-210. [CrossRef] [PubMed]
    • (2014) Clin. Immunol. , vol.153 , pp. 209-210
    • Grazioli, S.1    Bennett, M.2    Hildebrand, K.J.3    Vallance, H.4    Turvey, S.E.5    Junker, A.K.6
  • 25
    • 85009147038 scopus 로고    scopus 로고
    • MHC class II deficiency in the Dene native population: A case report highlighting pitfalls in diagnosis and treatment
    • Lyttle, A.; Roifman, C.; Dadi, H.; Wright, N.; Kavadas, F. MHC class II deficiency in the Dene native population: A case report highlighting pitfalls in diagnosis and treatment. Allergy Asthma Clin. Immunol. 2014, 10, A1. [CrossRef]
    • (2014) Allergy Asthma Clin. Immunol. , vol.10 , pp. A1
    • Lyttle, A.1    Roifman, C.2    Dadi, H.3    Wright, N.4    Kavadas, F.5
  • 29
    • 84985914241 scopus 로고    scopus 로고
    • Cystic fibrosis diagnosis and newborn screening
    • CrossRef PubMed
    • Rosenfeld, M.; Sontag, M.K.; Ren, C.L. Cystic fibrosis diagnosis and newborn screening. Pediatr. Clin. N. Am. 2016, 63, 599-615. [CrossRef] [PubMed]
    • (2016) Pediatr. Clin. N. Am. , vol.63 , pp. 599-615
    • Rosenfeld, M.1    Sontag, M.K.2    Ren, C.L.3
  • 31
    • 84949627233 scopus 로고    scopus 로고
    • Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders
    • CrossRef PubMed
    • Stranneheim, H.; Wedell, A. Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders. J. Intern. Med. 2016, 279, 3-15. [CrossRef] [PubMed]
    • (2016) J. Intern. Med. , vol.279 , pp. 3-15
    • Stranneheim, H.1    Wedell, A.2
  • 33
    • 34548233320 scopus 로고    scopus 로고
    • Population prevalence of diagnosed primary immunodeficiency diseases in the United States
    • CrossRef PubMed
    • Boyle, J.M.; Buckley, R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J. Clin. Immunol. 2007, 27, 497-502. [CrossRef] [PubMed]
    • (2007) J. Clin. Immunol. , vol.27 , pp. 497-502
    • Boyle, J.M.1    Buckley, R.H.2
  • 35
    • 85013290431 scopus 로고    scopus 로고
    • Genomic newborn screening: Public health policy considerations and recommendations
    • CrossRef PubMed
    • Friedman, J.M.; Cornel, M.C.; Goldenberg, A.J.; Lister, K.J.; Sénécal, K.; Vears, D.F.; The Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team. Genomic newborn screening: Public health policy considerations and recommendations. BMC Med. Genom. 2017, 10, 9. [CrossRef] [PubMed]
    • (2017) BMC Med. Genom. , vol.10 , pp. 9
    • Friedman, J.M.1    Cornel, M.C.2    Goldenberg, A.J.3    Lister, K.J.4    Sénécal, K.5    Vears, D.F.6
  • 36
    • 84958595587 scopus 로고    scopus 로고
    • Child mortality of children aged 5-15 years in the UK and Sweden: A comparison
    • CrossRef PubMed
    • Tambe, P.; Sammons, H.M.; Choonara, I. Child mortality of children aged 5-15 years in the UK and Sweden: A comparison. Arch. Dis. Child. 2016, 101, 409-410. [CrossRef] [PubMed]
    • (2016) Arch. Dis. Child. , vol.101 , pp. 409-410
    • Tambe, P.1    Sammons, H.M.2    Choonara, I.3
  • 37
    • 84942990923 scopus 로고    scopus 로고
    • Why do young children die in the UK? A comparison with Sweden
    • CrossRef PubMed
    • Tambe, P.; Sammons, H.M.; Choonara, I. Why do young children die in the UK? A comparison with sweden. Arch. Dis. Child. 2015, 100, 928-931. [CrossRef] [PubMed]
    • (2015) Arch. Dis. Child. , vol.100 , pp. 928-931
    • Tambe, P.1    Sammons, H.M.2    Choonara, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.