메뉴 건너뛰기




Volumn 3, Issue 2, 2017, Pages

Newborn screening for severe combined immunodeficiency in Israel

Author keywords

ARTEMIS; DNA cross link repair protein 1c (DCLRE1C); Israel; Newborn screening (NBS); Severe combined immunodeficiency (SCID); T cell receptor excision circle (TREC)

Indexed keywords


EID: 85034047543     PISSN: None     EISSN: 2409515X     Source Type: Journal    
DOI: 10.3390/ijns3020013     Document Type: Review
Times cited : (24)

References (33)
  • 1
    • 85063796427 scopus 로고    scopus 로고
    • Available online: accessed on 18 April 2017
    • The Central Bureau of Statistics (Israel). Available online: http://www.cbs.gov.il/reader/?MIval=cw_usr_view_SHTML&ID=638 (accessed on 18 April 2017).
  • 3
    • 0038002404 scopus 로고    scopus 로고
    • The impact of congenital malformations and mendelian diseases on infant mortality in Israel
    • Zlotogora, J.; Leventhal, A.; Amitai, Y. The impact of congenital malformations and mendelian diseases on infant mortality in Israel. Isr. Med. Assoc. J. 2003, 5, 416–418. [PubMed]
    • (2003) Isr. Med. Assoc. J. , vol.5 , pp. 416-418
    • Zlotogora, J.1    Leventhal, A.2    Amitai, Y.3
  • 6
    • 85063774604 scopus 로고    scopus 로고
    • Ministry of Health (Israel). Available online: accessed on 14 April 2017
    • Ministry of Health (Israel). Available online: http://www.health.gov.il/hozer/bz19_2015.pdf (accessed on 14 April 2017).
  • 8
    • 84885189606 scopus 로고    scopus 로고
    • 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
    • CrossRef PubMed
    • Dvorak, C.C.; Cowan, M.J.; Logan, B.R.; Notarangelo, L.D.; Griffith, L.M.; Puck, J.M.; Kohn, D.B.; Shearer, W.T.; O’Reilly, R.J.; Fleishe, T.A.; 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. 2014, 33, 1156–1164. [CrossRef] [PubMed]
    • (2014) J. Clin. Immunol. , vol.33 , pp. 1156-1164
    • Dvorak, C.C.1    Cowan, M.J.2    Logan, B.R.3    Notarangelo, L.D.4    Griffith, L.M.5    Puck, J.M.6    Kohn, D.B.7    Shearer, W.T.8    O’Reilly, R.J.9    Fleishe, T.A.10
  • 10
    • 79953082197 scopus 로고    scopus 로고
    • Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening brief report neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome
    • CrossRef PubMed
    • Brown, L.; Xu-Bayford, J.; Allwood, Z.; Slatter, M.; Cant, A.; Davies, E.G.; Veys, P.; Gennery, A.R.; Gaspar, H.B. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening brief report neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome. Blood 2011, 117, 3243–3246. [CrossRef] [PubMed]
    • (2011) Blood , vol.117 , pp. 3243-3246
    • Brown, L.1    Xu-Bayford, J.2    Allwood, Z.3    Slatter, M.4    Cant, A.5    Davies, E.G.6    Veys, P.7    Gennery, A.R.8    Gaspar, H.B.9
  • 17
    • 84856251374 scopus 로고    scopus 로고
    • The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients
    • CrossRef PubMed
    • Lev, A.; Simon, A.J.; Bareket, M.; Bielorai, B.; Hutt, D.; Amariglio, N.; Rechavi, G.; Somech, R. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS ONE 2012, 7, e30494. [CrossRef] [PubMed]
    • (2012) PLoS ONE , vol.7
    • Lev, A.1    Simon, A.J.2    Bareket, M.3    Bielorai, B.4    Hutt, D.5    Amariglio, N.6    Rechavi, G.7    Somech, R.8
  • 18
    • 84857055033 scopus 로고    scopus 로고
    • T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype
    • CrossRef PubMed
    • Amariglio, N.; Klein, A.; Dagan, L.; Lev, A.; Padeh, S.; Rechavi, G.; Berkun, Y.; Somech, R. T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype. J. Clin. Immunol. 2011, 31, 1021–1028. [CrossRef] [PubMed]
    • (2011) J. Clin. Immunol. , vol.31 , pp. 1021-1028
    • Amariglio, N.1    Klein, A.2    Dagan, L.3    Lev, A.4    Padeh, S.5    Rechavi, G.6    Berkun, Y.7    Somech, R.8
  • 21
    • 84929844022 scopus 로고    scopus 로고
    • A call to include severe combined immunodeficiency in newborn screening program
    • CrossRef PubMed
    • Somech, R.; Etzioni, A. A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med. J. 2014, 5, e0001. [CrossRef] [PubMed]
    • (2014) Rambam Maimonides Med. J. , vol.5 , pp. e0001
    • Somech, R.1    Etzioni, A.2
  • 22
    • 84929836617 scopus 로고    scopus 로고
    • TREC based newborn screening for severe combined immunodeficiency disease: A systematic review
    • CrossRef PubMed
    • Van Der Spek, J.; Groenwold, R.H.H.; Van Der Burg, M.; Van Montfrans, J.M. TREC based newborn screening for severe combined immunodeficiency disease: A systematic review. J. Clin. Immunol. 2015, 35, 416–430. [CrossRef] [PubMed]
    • (2015) J. Clin. Immunol. , vol.35 , pp. 416-430
    • Van Der Spek, J.1    Groenwold, R.H.H.2    Van Der Burg, M.3    Van Montfrans, J.M.4
  • 23
    • 85063790086 scopus 로고    scopus 로고
    • Available online: accessed on 24 May 2017
    • PerkinElmer Enlite Neonatal TREC Kit. Available online: https://newbornscreening.perkinelmer.com/files/358/EnLite_Neonatal_TREC_BRO_(ROW)_1599-9774-01_.pdf (accessed on 24 May 2017).
    • PerkinElmer Enlite Neonatal TREC Kit
  • 25
    • 80051791964 scopus 로고    scopus 로고
    • Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or omenn syndrome
    • CrossRef PubMed
    • Dalal, I.; Tasher, D.; Somech, R.; Etzioni, A.; Garti, B.Z.; Lev, D.; Cohen, S.; Somekh, E.; Leshinsky-Silver, E. Novel mutations in RAG1/2 and ADA genes in israeli patients presenting with T-B-SCID or omenn syndrome. Clin. Immunol. 2011, 140, 284–290. [CrossRef] [PubMed]
    • (2011) Clin. Immunol. , vol.140 , pp. 284-290
    • Dalal, I.1    Tasher, D.2    Somech, R.3    Etzioni, A.4    Garti, B.Z.5    Lev, D.6    Cohen, S.7    Somekh, E.8    Leshinsky-Silver, E.9
  • 28
    • 84929707133 scopus 로고    scopus 로고
    • History and current status of newborn screening for severe combined immunodeficiency
    • CrossRef PubMed
    • Kwan, A.; Puck, J.M. History and current status of newborn screening for severe combined immunodeficiency. Semin. Perinatol. 2015, 39, 194–205. [CrossRef] [PubMed]
    • (2015) Semin. Perinatol. , vol.39 , pp. 194-205
    • Kwan, A.1    Puck, J.M.2
  • 29
    • 0037097787 scopus 로고    scopus 로고
    • A founder mutation in ARTEMIS, an SNM1-Like protein, causes SCID in athabascan-speaking native Americans
    • CrossRef PubMed
    • Li, L.; Moshous, D.; Zhou, Y.; Wang, J.; Xie, G.; Salido, E.; Hu, D.; de Villartay, J.P.; Cowan, M.J. A founder mutation in ARTEMIS, an SNM1-Like protein, causes SCID in athabascan-speaking native americans. J. Immunol. 2002, 168, 6323–6329. [CrossRef] [PubMed]
    • (2002) J. Immunol. , vol.168 , pp. 6323-6329
    • Li, L.1    Moshous, D.2    Zhou, Y.3    Wang, J.4    Xie, G.5    Salido, E.6    Hu, D.7    de Villartay, J.P.8    Cowan, M.J.9
  • 30
    • 84858650277 scopus 로고    scopus 로고
    • Brief report neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
    • CrossRef PubMed
    • Borte, S.; von Döbeln, U.; Fasth, A.; Wang, N.; Janzi, M.; Winiarski, J.; Sack, U.; Pan-Hammarström, Q.; Borte, M.; Hammarström, L. Brief report neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012, 119, 1–4. [CrossRef] [PubMed]
    • (2012) Blood , vol.119 , pp. 1-4
    • Borte, S.1    von Döbeln, U.2    Fasth, A.3    Wang, N.4    Janzi, M.5    Winiarski, J.6    Sack, U.7    Pan-Hammarström, Q.8    Borte, M.9    Hammarström, L.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.