메뉴 건너뛰기




Volumn 32, Issue 3, 2012, Pages 411-420

Clinical and genetic characteristics of XIAP deficiency in Japan

(17)  Yang, Xi a,b   Kanegane, Hirokazu a   Nishida, Naonori a   Imamura, Toshihiko c   Hamamoto, Kazuko d   Miyashita, Ritsuko e   Imai, Kohsuke f   Nonoyama, Shigeaki f   Sanayama, Kazunori g   Yamaide, Akiko h   Kato, Fumiyo i   Nagai, Kozo j   Ishii, Eiichi j   Van Zelm, Menno C k   Latour, Sylvain l   Zhao, Xiao Dong b   Miyawaki, Toshio a  


Author keywords

Epstein Barr virus; hemophagocytic lymphohistiocytosis; invariant natural killer T cell; X linked inhibitor of apoptosis; X linked lymphoproliferative syndrome

Indexed keywords

CORTICOSTEROID; CYCLOSPORIN A; DEXAMETHASONE; IMMUNOGLOBULIN G; INFLIXIMAB; TUMOR NECROSIS FACTOR ALPHA ANTIBODY; X LINKED INHIBITOR OF APOPTOSIS;

EID: 84861478482     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9638-z     Document Type: Article
Times cited : (80)

References (38)
  • 1
    • 0034331249 scopus 로고    scopus 로고
    • Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
    • Sumegi J, Huang D, Lanyi A, Davis JD, Seemayer TA, Maeda A, et al. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000;96:3118-25.
    • (2000) Blood , vol.96 , pp. 3118-3125
    • Sumegi, J.1    Huang, D.2    Lanyi, A.3    Davis, J.D.4    Seemayer, T.A.5    Maeda, A.6
  • 8
    • 0029953942 scopus 로고    scopus 로고
    • Cloning and expression of apoptosis inhibitory protein homologs that function to inhibit apoptosis and/or bind tumor necrosis factor receptor-associated factors
    • Uren AG, Pakusch M, Hawkins CJ, Puls KL, Vaux DL. Cloning and expression of apoptosis inhibitory protein homologs that function to inhibit apoptosis and/or bind tumor necrosis factor receptor-associated factors. Proc Natl Acad Sci USA. 1996;93:4974-8.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 4974-4978
    • Uren, A.G.1    Pakusch, M.2    Hawkins, C.J.3    Puls, K.L.4    Vaux, D.L.5
  • 11
    • 77449136104 scopus 로고    scopus 로고
    • XIAP as a ubiquitin ligase in cellular signaling
    • Galbán S, Duckett CS. XIAP as a ubiquitin ligase in cellular signaling. Cell Death Differ. 2010;17:54-60.
    • (2010) Cell Death Differ. , vol.17 , pp. 54-60
    • Galbán, S.1    Duckett, C.S.2
  • 12
    • 77956508441 scopus 로고    scopus 로고
    • XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
    • Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;7:1079-82.
    • (2010) Blood , vol.7 , pp. 1079-1082
    • Marsh, R.A.1    Madden, L.2    Kitchen, B.J.3    Mody, R.4    McClimon, B.5    Jordan, M.B.6
  • 13
    • 79551644967 scopus 로고    scopus 로고
    • Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAPdeficiency)
    • Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAPdeficiency). Blood. 2011;117:1522-9.
    • (2011) Blood , vol.117 , pp. 1522-1529
    • Pachlopnik Schmid, J.1    Canioni, D.2    Moshous, D.3    Touzot, F.4    Mahlaoui, N.5    Hauck, F.6
  • 14
    • 77950640045 scopus 로고    scopus 로고
    • A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly
    • Zhao M, Kanegane H, Ouchi K, Imamura T, Latour S, Miyawaki T. A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica. 2010;95:688-9.
    • (2010) Haematologica , vol.95 , pp. 688-689
    • Zhao, M.1    Kanegane, H.2    Ouchi, K.3    Imamura, T.4    Latour, S.5    Miyawaki, T.6
  • 15
    • 78149356369 scopus 로고    scopus 로고
    • X-linked lymphoproliferative syndromes: Brothers or distant cousins?
    • Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010;116:3398-408.
    • (2010) Blood , vol.116 , pp. 3398-3408
    • Filipovich, A.H.1    Zhang, K.2    Snow, A.L.3    Marsh, R.A.4
  • 16
    • 74849095435 scopus 로고    scopus 로고
    • A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency
    • Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, et al. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009;76:334-44.
    • (2009) Cytometry B Clin Cytom , vol.76 , pp. 334-344
    • Marsh, R.A.1    Villanueva, J.2    Zhang, K.3    Snow, A.L.4    Su, H.C.5    Madden, L.6
  • 17
    • 77958509989 scopus 로고    scopus 로고
    • Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency
    • Marsh RA, Bleesing JJ, Filipovich AH. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods. 2010;362:1-9.
    • (2010) J Immunol Methods , vol.362 , pp. 1-9
    • Marsh, R.A.1    Bleesing, J.J.2    Filipovich, A.H.3
  • 18
    • 0034176232 scopus 로고    scopus 로고
    • + cytotoxic T lymphocytes in humans
    • Yasukawa M, Ohminami H, Arai J, Kasahara Y, Ishida Y, Fujita S. Granule exocytosis, and not the fas/fas ligand system, is the main pathway of cytotoxity mediated by alloantigen-specific CD4(+) as well as CD8(+) cytotoxic T lymphocytes in humans. Blood. 2000;95:2352-5. (Pubitemid 30167735)
    • (2000) Blood , vol.95 , Issue.7 , pp. 2352-2355
    • Yasukawa, M.1    Ohminami, H.2    Arai, J.3    Kasahara, Y.4    Ishida, Y.5    Fujita, S.6
  • 23
    • 67349171083 scopus 로고    scopus 로고
    • Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations
    • Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, et al. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009;132:116-23.
    • (2009) Clin Immunol , vol.132 , pp. 116-123
    • Marsh, R.A.1    Villanueva, J.2    Kim, M.O.3    Zhang, K.4    Marmer, D.5    Risma, K.A.6
  • 24
    • 0028847795 scopus 로고
    • Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficienc
    • Puck JM, Pepper AE, Bedard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficienc. J Clin Invest. 1995;95:895-9.
    • (1995) J Clin Invest , vol.95 , pp. 895-899
    • Puck, J.M.1    Pepper, A.E.2    Bedard, P.M.3    Laframboise, R.4
  • 25
    • 0031052589 scopus 로고    scopus 로고
    • Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred
    • DOI 10.1023/A:1027332327827
    • O'Marcaigh A, Puck JM, Pepper AE, Santes KD, Cowan MJ. Maternal mosaicism for a novel interleukin-2 receptor gammachain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J Clin Immunol. 1997;17:29-33. (Pubitemid 27083452)
    • (1997) Journal of Clinical Immunology , vol.17 , Issue.1 , pp. 29-33
    • O'Marcaigh, A.S.1    Puck, J.M.2    Pepper, A.E.3    De Santes, K.4    Cowan, M.J.5
  • 28
    • 35948985125 scopus 로고    scopus 로고
    • Natural killer T cells and X-linked lymphoproliferative syndrome
    • DOI 10.1097/ACI.0b013e3282f1bad6, PII 0013083220071200000008
    • Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol. 2007;7:510-4. (Pubitemid 350076446)
    • (2007) Current Opinion in Allergy and Clinical Immunology , vol.7 , Issue.6 , pp. 510-514
    • Latour, S.1
  • 32
    • 34250849637 scopus 로고    scopus 로고
    • Control points in NKT-cell development
    • DOI 10.1038/nri2116, PII NRI2116
    • Godfrey DI, Berzins SP. Control points in NKT-cell development. Nat Rev Immunol. 2007;7:505-18. (Pubitemid 46987785)
    • (2007) Nature Reviews Immunology , vol.7 , Issue.7 , pp. 505-518
    • Godfrey, D.I.1    Berzins, S.P.2
  • 34
    • 50849091946 scopus 로고    scopus 로고
    • XIAP regulates cytosol-specific immunity to Listeria infection
    • Bauler LD, Duckett CS, O'Riordan MX. XIAP regulates cytosol-specific immunity to Listeria infection. PLoS Pathog. 2008;4:e1000142.
    • (2008) PLoS Pathog , vol.4
    • Bauler, L.D.1    Duckett, C.S.2    O'Riordan, M.X.3
  • 35
    • 55949118498 scopus 로고    scopus 로고
    • Flow cytometric detection of perforin upregulation in human CD8 T cells
    • Hersperger AR, Makedonas G, Betts MR. Flow cytometric detection of perforin upregulation in human CD8 T cells. Cytometry A. 2008;73:1050-7.
    • (2008) Cytometry A , vol.73 , pp. 1050-1057
    • Hersperger, A.R.1    Makedonas, G.2    Betts, M.R.3
  • 36
    • 0034721646 scopus 로고    scopus 로고
    • Mannose 6-phosphate/insulin-like growth factor II receptor is a death receptor for granzyme B during cytotoxic T cell-induced apoptosis
    • Motyka B, Korbutt G, Pinkoski MJ, Heibein JA, Caputo A, Hobman M, et al. Mannose 6-phosphate/insulin-like growth factor II receptor is a death receptor for granzyme B during cytotoxic T cell-induced apoptosis. Cell. 2000;103:491-500.
    • (2000) Cell , vol.103 , pp. 491-500
    • Motyka, B.1    Korbutt, G.2    Pinkoski, M.J.3    Heibein, J.A.4    Caputo, A.5    Hobman, M.6
  • 38
    • 70350500464 scopus 로고    scopus 로고
    • Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
    • zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, et al. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85:482-92.
    • (2009) Am J Hum Genet , vol.85 , pp. 482-492
    • Zur Stadt, U.1    Rohr, J.2    Seifert, W.3    Koch, F.4    Grieve, S.5    Pagel, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.