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Volumn 131, Issue 4, 2013, Pages 1227-1230.e3

First reported case of Omenn syndrome in a patient with reticular dysgenesis

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; DEFIBROTIDE; GENOMIC DNA; HLA A2 ANTIGEN; IMMUNOGLOBULIN; METHYLPREDNISOLONE; THYMOCYTE ANTIBODY; URSODEOXYCHOLIC ACID;

EID: 84875736204     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.07.045     Document Type: Article
Times cited : (26)

References (11)
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  • 2
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    • T.N. Small, D.A. Wall, J. Kurtzberg, M.J. Cowan, R.J. O'Reilly, and W. Friedrich Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness J Pediatr 135 1999 387 389 (Pubitemid 30180518)
    • (1999) Journal of Pediatrics , vol.135 , Issue.3 , pp. 387-389
    • Small, T.N.1    Wall, D.A.2    Kurtzberg, J.3    Cowan, M.J.4    O'Reilly, R.J.5    Friedrich, W.6
  • 3
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    • Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
    • C. Lagresle-Peyrou, E.M. Six, C. Picard, F. Rieux-Laucat, V. Michel, and A. Ditadi Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness Nat Genet 41 2009 106 111
    • (2009) Nat Genet , vol.41 , pp. 106-111
    • Lagresle-Peyrou, C.1    Six, E.M.2    Picard, C.3    Rieux-Laucat, F.4    Michel, V.5    Ditadi, A.6
  • 4
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    • Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
    • U. Pannicke, M. Hönig, I. Hess, C. Friesen, K. Holzmann, and E.-M. Rump Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 Nat Genet 41 2009 101 105
    • (2009) Nat Genet , vol.41 , pp. 101-105
    • Pannicke, U.1    Hönig, M.2    Hess, I.3    Friesen, C.4    Holzmann, K.5    Rump, E.-M.6
  • 5
    • 57149136599 scopus 로고    scopus 로고
    • Omenn syndrome: Inflammation in leaky severe combined immunodeficiency
    • A. Villa, L.D. Notarangelo, and C.M. Roifman Omenn syndrome: inflammation in leaky severe combined immunodeficiency J Allergy Clin Immunol 122 2008 1082 1086
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1082-1086
    • Villa, A.1    Notarangelo, L.D.2    Roifman, C.M.3
  • 6
    • 69949094169 scopus 로고    scopus 로고
    • Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: A phase 1/2 study
    • K.C. Straathof, K. Rao, M. Eyrich, G. Hale, P. Bird, and E. Berrie Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study Lancet 374 2009 912 920
    • (2009) Lancet , vol.374 , pp. 912-920
    • Straathof, K.C.1    Rao, K.2    Eyrich, M.3    Hale, G.4    Bird, P.5    Berrie, E.6
  • 7
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    • 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
    • J.L. Gerstel-Thompson, J.F. Wilkey, J.C. Baptiste, J.S. Navas, S.-Y. Pai, and K.A. Pass 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 56 2010 1466 1474
    • (2010) Clin Chem , vol.56 , pp. 1466-1474
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    • Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency
    • S.-Y. Pai, O. Levy, H.H. Jabara, J.N. Glickman, L. Stoler-Barak, and J. Sachs Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency J Allergy Clin Immunol 122 2008 1113 1118.e1
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.