메뉴 건너뛰기




Volumn 24, Issue 3, 2013, Pages 250-256

The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome

Author keywords

Combined immunodeficiency; Hematopoietic stem cell transplantation; SP110; Veno occlusive disease with immunodeficiency

Indexed keywords

ALEMTUZUMAB; BUSULFAN; CYCLOPHOSPHAMIDE; DEFIBROTIDE; FLUDARABINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MITOGENIC AGENT; THIOTEPA; THYMOCYTE ANTIBODY; TREOSULFAN;

EID: 84876448639     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/pai.12051     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0017232852 scopus 로고
    • Familial hepatic venoocclusive disease with probable immune deficiency
    • Mellis C, Bale PM. Familial hepatic venoocclusive disease with probable immune deficiency. J Pediatr 1976: 88: 236-42.
    • (1976) J Pediatr , vol.88 , pp. 236-242
    • Mellis, C.1    Bale, P.M.2
  • 2
    • 33745258176 scopus 로고    scopus 로고
    • Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
    • Roscioli T, Cliffe ST, Bloch DB, et al. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet 2006: 38: 620-2.
    • (2006) Nat Genet , vol.38 , pp. 620-622
    • Roscioli, T.1    Cliffe, S.T.2    Bloch, D.B.3
  • 3
    • 79955621561 scopus 로고    scopus 로고
    • Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency
    • Van derBurg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr 2011: 170: 561-71.
    • (2011) Eur J Pediatr , vol.170 , pp. 561-571
    • Van derBurg, M.1    Gennery, A.R.2
  • 4
    • 0036747816 scopus 로고    scopus 로고
    • A primary immunodeficiency disorder associated with absence of lymphoid germinal centers
    • Eisenstein EM, Aker M, Savoldi G, Jaffe R, Prus D. A primary immunodeficiency disorder associated with absence of lymphoid germinal centers. J Clin Immunol 2002: 22: 297-305.
    • (2002) J Clin Immunol , vol.22 , pp. 297-305
    • Eisenstein, E.M.1    Aker, M.2    Savoldi, G.3    Jaffe, R.4    Prus, D.5
  • 5
    • 0036125693 scopus 로고    scopus 로고
    • Toxic injury to hepatic sinusoids: sinusoidal obstruction syndrome (veno-occlusive disease)
    • DeLeve LD, Shulman HM, McDonald GB. Toxic injury to hepatic sinusoids: sinusoidal obstruction syndrome (veno-occlusive disease). Semin Liver Dis 2002: 22: 27-42.
    • (2002) Semin Liver Dis , vol.22 , pp. 27-42
    • DeLeve, L.D.1    Shulman, H.M.2    McDonald, G.B.3
  • 6
    • 0033860185 scopus 로고    scopus 로고
    • Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator
    • Bloch DB, Nakajima A, Gulick T, et al. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. Mol Cell Biol 2000: 20: 6138-46.
    • (2000) Mol Cell Biol , vol.20 , pp. 6138-6146
    • Bloch, D.B.1    Nakajima, A.2    Gulick, T.3
  • 7
    • 80052455049 scopus 로고
    • Hepatic Veno-Occlusive Disease with Immunodeficiency. 2007 Feb 21 [Updated 2009 Sep 15]
    • In: Pagon RA, Bird TD, Dolan CR, eds. [Internet]. Seattle (WA): University of Washington, Seattle; Available from:
    • Roscioli T, Ziegler JB, Buckley M, et al. Hepatic Veno-Occlusive Disease with Immunodeficiency. 2007 Feb 21 [Updated 2009 Sep 15]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1271/
    • (1993) GeneReviews™
    • Roscioli, T.1    Ziegler, J.B.2    Buckley, M.3
  • 8
    • 84865684727 scopus 로고    scopus 로고
    • Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
    • Cliffe ST, Bloch DB, Suryani S, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol 2012: 130: 735-42.e6.
    • (2012) J Allergy Clin Immunol , vol.130
    • Cliffe, S.T.1    Bloch, D.B.2    Suryani, S.3
  • 9
    • 34547176146 scopus 로고    scopus 로고
    • The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
    • Cliffe ST, Wong M, Taylor PJ, et al. The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenat Diagn 2007: 27: 674-6.
    • (2007) Prenat Diagn , vol.27 , pp. 674-676
    • Cliffe, S.T.1    Wong, M.2    Taylor, P.J.3
  • 10
    • 52649088800 scopus 로고    scopus 로고
    • Measurement of proliferative responses of cultured lymphocytes
    • Unit-Uni7
    • James SP. Measurement of proliferative responses of cultured lymphocytes. Curr Protoc Immunol 2001: 7: Unit-7.
    • (2001) Curr Protoc Immunol , vol.7
    • James, S.P.1
  • 11
    • 80255138201 scopus 로고    scopus 로고
    • T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders
    • Somech R. T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders. Curr Opin Allergy Clin Immunol 2011: 11: 517-24.
    • (2011) Curr Opin Allergy Clin Immunol , vol.11 , pp. 517-524
    • Somech, R.1
  • 13
    • 0242550686 scopus 로고    scopus 로고
    • Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study
    • Shearer WT, Rosenblatt HM, Gelman RS, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol 2003: 112: 973-80.
    • (2003) J Allergy Clin Immunol , vol.112 , pp. 973-980
    • Shearer, W.T.1    Rosenblatt, H.M.2    Gelman, R.S.3
  • 15
    • 84866787417 scopus 로고    scopus 로고
    • Abstracts of the 15th Biennial Meeting of the European Society for Immunodeficiency. October 3-6, 2012. Florence, Italy
    • Recher M, Deenick E, Al-Herz W, et al. Abstracts of the 15th Biennial Meeting of the European Society for Immunodeficiency. October 3-6, 2012. Florence, Italy. J Clin Immunol 2012: 32 Suppl 1: S2-407.
    • (2012) J Clin Immunol , Issue.32 SUPPL 1
    • Recher, M.1    Deenick, E.2    Al-Herz, W.3
  • 16
    • 77956384499 scopus 로고    scopus 로고
    • 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
    • Gerstel-Thompson JL, Wilkey JF, Baptiste JC, et al. 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. Clin Chem 2010: 56: 1466-74.
    • (2010) Clin Chem , vol.56 , pp. 1466-1474
    • Gerstel-Thompson, J.L.1    Wilkey, J.F.2    Baptiste, J.C.3
  • 17
    • 84857800108 scopus 로고    scopus 로고
    • Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles
    • Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol 2012: 129: 607-16.
    • (2012) J Allergy Clin Immunol , vol.129 , pp. 607-616
    • Puck, J.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.