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Volumn 117, Issue 5, 2011, Pages 1522-1529

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(33)  Schmid, Jana Pachlopnik a,b   Canioni, Danielle a   Moshous, Despina a,b   Touzot, Fabien a   Mahlaoui, Nizar a   Hauck, Fabian a,b   Kanegane, Hirokazu c   Lopez Granados, Eduardo d   Mejstrikova, Ester e   Pellier, Isabelle f,g   Galicier, Lionel h   Galambrun, Claire i   Barlogis, Vincent i   Bordigoni, Pierre j   Fourmaintraux, Alain k   Hamidou, Mohamed l   Dabadie, Alain m   Le Deist, Françoise n   Haerynck, Filomeen o   Ouachée Chardin, Marie p   more..


Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; CORTICOSTEROID DERIVATIVE; CYCLOSPORIN A; IMMUNOGLOBULIN; INFLIXIMAB; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS;

EID: 79551644967     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-07-298372     Document Type: Article
Times cited : (310)

References (36)
  • 1
    • 0016383913 scopus 로고
    • Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis
    • Purtilo DT, Cassel C, Yang JP. Letter: fatal infectious mononucleosis in familial lymphohistiocytosis. N Engl J Med. 1974;291(14):736.
    • (1974) N Engl J Med , vol.291 , Issue.14 , pp. 736
    • Purtilo, D.T.1    Cassel, C.2    Yang, J.P.3
  • 2
    • 0016772968 scopus 로고
    • X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
    • Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975;1(7913):935-940.
    • (1975) Lancet , vol.1 , Issue.7913 , pp. 935-940
    • Purtilo, D.T.1    Cassel, C.K.2    Yang, J.P.3    Harper, R.4
  • 3
    • 0029161779 scopus 로고
    • X-linked lymphoproliferative disease: Twenty-five years after the discovery
    • Seemayer TA, Gross TG, Egeler RM, et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res. 1995;38(4):471-478.
    • (1995) Pediatr Res , vol.38 , Issue.4 , pp. 471-478
    • Seemayer, T.A.1    Gross, T.G.2    Egeler, R.M.3
  • 4
    • 33845619137 scopus 로고    scopus 로고
    • HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
    • Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131.
    • (2007) Pediatr Blood Cancer , vol.48 , Issue.2 , pp. 124-131
    • Henter, J.I.1    Horne, A.2    Arico, M.3
  • 5
    • 0032190081 scopus 로고    scopus 로고
    • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
    • Sayos J, Wu C, Morra M, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998;395(6701):462-469.
    • (1998) Nature , vol.395 , Issue.6701 , pp. 462-469
    • Sayos, J.1    Wu, C.2    Morra, M.3
  • 6
    • 17344372694 scopus 로고    scopus 로고
    • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
    • Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20(2):129-135.
    • (1998) Nat Genet , vol.20 , Issue.2 , pp. 129-135
    • Coffey, A.J.1    Brooksbank, R.A.2    Brandau, O.3
  • 7
    • 33750597717 scopus 로고    scopus 로고
    • XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
    • Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110-114.
    • (2006) Nature , vol.444 , Issue.7115 , pp. 110-114
    • Rigaud, S.1    Fondaneche, M.C.2    Lambert, N.3
  • 8
    • 77950640045 scopus 로고    scopus 로고
    • Anovel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly
    • Zhao M, Kanegane H, Ouchi K, Imamura T, Latour S, Miyawaki T.Anovel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica. 2009;95(4):688-689.
    • (2009) Haematologica , vol.95 , Issue.4 , pp. 688-689
    • Zhao, M.1    Kanegane, H.2    Ouchi, K.3    Imamura, T.4    Latour, S.5    Miyawaki, T.6
  • 9
    • 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, 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(116):1079-1082.
    • (2010) Blood , vol.7 , Issue.116 , pp. 1079-1082
    • Marsh, R.A.1    Madden, L.2    Kitchen, B.J.3
  • 10
    • 0036434912 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease: Clinical, diagnostic and molecular perspective
    • Gaspar HB, Sharifi R, Gilmour KC, Thrasher AJ. X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective. Br J Haematol. 2002;119(3):585-595.
    • (2002) Br J Haematol , vol.119 , Issue.3 , pp. 585-595
    • Gaspar, H.B.1    Sharifi, R.2    Gilmour, K.C.3    Thrasher, A.J.4
  • 12
    • 0025860510 scopus 로고
    • Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease
    • Grierson HL, Skare J, Hawk J, Pauza M, Purtilo DT. Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am J Med Genet. 1991;40(3):294-297.
    • (1991) Am J Med Genet , vol.40 , Issue.3 , pp. 294-297
    • Grierson, H.L.1    Skare, J.2    Hawk, J.3    Pauza, M.4    Purtilo, D.T.5
  • 13
    • 0035171816 scopus 로고    scopus 로고
    • Lymphocytic vasculitis in X-linked lymphoproliferative disease
    • Dutz JP, Benoit L, Wang X, et al. Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood. 2001;97(1):95-100.
    • (2001) Blood , vol.97 , Issue.1 , pp. 95-100
    • Dutz, J.P.1    Benoit, L.2    Wang, X.3
  • 14
    • 34247892632 scopus 로고    scopus 로고
    • Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules
    • Ma CS, Nichols KE, Tangye SG. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol. 2007;25:337-379.
    • (2007) Annu Rev Immunol , vol.25 , pp. 337-379
    • Ma, C.S.1    Nichols, K.E.2    Tangye, S.G.3
  • 15
    • 33749252583 scopus 로고    scopus 로고
    • Human inhibitor of apoptosis proteins: Why XIAP is the black sheep of the family
    • Eckelman BP, Salvesen GS, Scott FL. Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family. EMBO Rep. 2006;7(10):988-994.
    • (2006) EMBO Rep , vol.7 , Issue.10 , pp. 988-994
    • Eckelman, B.P.1    Salvesen, G.S.2    Scott, F.L.3
  • 16
    • 77449136104 scopus 로고    scopus 로고
    • XIAP as a ubiquitin ligase in cellular signaling
    • Galban S, Duckett CS. XIAP as a ubiquitin ligase in cellular signaling. Cell Death Differ. 2009;17(1):54-60.
    • (2009) Cell Death Differ , vol.17 , Issue.1 , pp. 54-60
    • Galban, S.1    Duckett, C.S.2
  • 17
    • 34447342831 scopus 로고    scopus 로고
    • Limbic encephalitis as presentation of a SAP deficiency
    • Verhelst H, Van Coster R, Bockaert N, et al. Limbic encephalitis as presentation of a SAP deficiency. Neurology. 2007;69(2):218-219.
    • (2007) Neurology , vol.69 , Issue.2 , pp. 218-219
    • Verhelst, H.1    Van Coster, R.2    Bockaert, N.3
  • 18
    • 73449119611 scopus 로고    scopus 로고
    • Hepatobiliary associations with inflammatory bowel disease
    • Knight C, Murray KF. Hepatobiliary associations with inflammatory bowel disease. Expert Rev Gastroenterol Hepatol. 2009;3(6):681-691.
    • (2009) Expert Rev Gastroenterol Hepatol , vol.3 , Issue.6 , pp. 681-691
    • Knight, C.1    Murray, K.F.2
  • 19
    • 73149100111 scopus 로고    scopus 로고
    • An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma
    • Hervier B, Latour S, Loussouarn D, et al. An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. J Neuroimmunol. 2010;218(1-2):125-128.
    • (2010) J Neuroimmunol , vol.218 , Issue.1-2 , pp. 125-128
    • Hervier, B.1    Latour, S.2    Loussouarn, D.3
  • 20
    • 38649116029 scopus 로고    scopus 로고
    • Chronic active gastritis in X-linked lymphoproliferative disease
    • Rougemont AL, Fournet JC, Martin SR, et al. Chronic active gastritis in X-linked lymphoproliferative disease. Am J Surg Pathol. 2008;32(2):323-328.
    • (2008) Am J Surg Pathol , vol.32 , Issue.2 , pp. 323-328
    • Rougemont, A.L.1    Fournet, J.C.2    Martin, S.R.3
  • 21
    • 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, 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(9):3118-3125.
    • (2000) Blood , vol.96 , Issue.9 , pp. 3118-3125
    • Sumegi, J.1    Huang, D.2    Lanyi, A.3
  • 22
    • 69049110783 scopus 로고    scopus 로고
    • Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells
    • Dong Z, Cruz-Munoz ME, Zhong MC, Chen R, Latour S, Veillette A. Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells. Nat Immunol. 2009;10(9):973-980.
    • (2009) Nat Immunol , vol.10 , Issue.9 , pp. 973-980
    • Dong, Z.1    Cruz-Munoz, M.E.2    Zhong, M.C.3    Chen, R.4    Latour, S.5    Veillette, A.6
  • 23
    • 22344436371 scopus 로고    scopus 로고
    • Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn
    • Bloch-Queyrat C, Fondaneche MC, Chen R, et al. Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med. 2005;202(1):181-192.
    • (2005) J Exp Med , vol.202 , Issue.1 , pp. 181-192
    • Bloch-Queyrat, C.1    Fondaneche, M.C.2    Chen, R.3
  • 24
    • 0034618065 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
    • Parolini S, Bottino C, Falco M, et al. X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med. 2000;192(3):337-346.
    • (2000) J Exp Med , vol.192 , Issue.3 , pp. 337-346
    • Parolini, S.1    Bottino, C.2    Falco, M.3
  • 25
    • 19344372415 scopus 로고    scopus 로고
    • SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells
    • Dupre L, Andolfi G, Tangye SG, et al. SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells. Blood. 2005;105(11):4383-4389.
    • (2005) Blood , vol.105 , Issue.11 , pp. 4383-4389
    • Dupre, L.1    Andolfi, G.2    Tangye, S.G.3
  • 26
    • 2342565731 scopus 로고    scopus 로고
    • SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease
    • Sharifi R, Sinclair JC, Gilmour KC, et al. SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood. 2004;103(10):3821-3827.
    • (2004) Blood , vol.103 , Issue.10 , pp. 3821-3827
    • Sharifi, R.1    Sinclair, J.C.2    Gilmour, K.C.3
  • 27
    • 78049368414 scopus 로고    scopus 로고
    • Impaired Epstein-Barr virus-specific CD8+ T cell function in X-linked lymphoproliferative disease is restricted to SLAM family positive B cell targets
    • Blood
    • Hislop AD, Palendira U, Leese AM, et al. Impaired Epstein-Barr virus-specific CD8+ T cell function in X-linked lymphoproliferative disease is restricted to SLAM family positive B cell targets. Blood. Blood. 2010;116(17):3249-3257.
    • (2010) Blood , vol.116 , Issue.17 , pp. 3249-3257
    • Hislop, A.D.1    Palendira, U.2    Leese, A.M.3
  • 28
    • 34248221204 scopus 로고    scopus 로고
    • Genetic defects affecting lymphocyte cytotoxicity
    • Fischer A, Latour S, de Saint Basile G. Genetic defects affecting lymphocyte cytotoxicity. Curr Opin Immunol. 2007;19(3):348-353.
    • (2007) Curr Opin Immunol , vol.19 , Issue.3 , pp. 348-353
    • Fischer, A.1    Latour, S.2    De Saint Basile, G.3
  • 30
    • 70149099161 scopus 로고    scopus 로고
    • XIAP mediates NOD signaling via interaction with RIP2
    • Krieg A, Correa RG, Garrison JB, et al. XIAP mediates NOD signaling via interaction with RIP2. Proc Natl Acad Sci U S A. 2009;106(34):14524-14529.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.34 , pp. 14524-14529
    • Krieg, A.1    Correa, R.G.2    Garrison, J.B.3
  • 31
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411(6837):599-603.
    • (2001) Nature , vol.411 , Issue.6837 , pp. 599-603
    • Hugot, J.P.1    Chamaillard, M.2    Zouali, H.3
  • 32
    • 70349678683 scopus 로고    scopus 로고
    • Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency
    • Snow AL, Marsh RA, Krummey SM, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009;119(10):2976-2989.
    • (2009) J Clin Invest , vol.119 , Issue.10 , pp. 2976-2989
    • Snow, A.L.1    Marsh, R.A.2    Krummey, S.M.3
  • 33
    • 23444433656 scopus 로고    scopus 로고
    • Signaling lymphocyte activation molecule-associated protein is a negative regulator of the CD8 T cell response in mice
    • Chen G, Tai AK, Lin M, Chang F, Terhorst C, Huber BT. Signaling lymphocyte activation molecule-associated protein is a negative regulator of the CD8 T cell response in mice. J Immunol. 2005;175(4):2212-2218.
    • (2005) J Immunol , vol.175 , Issue.4 , pp. 2212-2218
    • Chen, G.1    Tai, A.K.2    Lin, M.3    Chang, F.4    Terhorst, C.5    Huber, B.T.6
  • 34
    • 0037448564 scopus 로고    scopus 로고
    • SAP is required for generating long-term humoral immunity
    • Crotty S, Kersh EN, Cannons J, Schwartzberg PL, Ahmed R. SAP is required for generating long-term humoral immunity. Nature. 2003;421(6920):282-287.
    • (2003) Nature , vol.421 , Issue.6920 , pp. 282-287
    • Crotty, S.1    Kersh, E.N.2    Cannons, J.3    Schwartzberg, P.L.4    Ahmed, R.5
  • 35
    • 53649107278 scopus 로고    scopus 로고
    • SAP-controlled T-B cell interactions underlie germinal centre formation
    • Qi H, Cannons JL, Klauschen F, Schwartzberg PL, Germain RN. SAP-controlled T-B cell interactions underlie germinal centre formation. Nature. 2008;455(7214):764-769.
    • (2008) Nature , vol.455 , Issue.7214 , pp. 764-769
    • Qi, H.1    Cannons, J.L.2    Klauschen, F.3    Schwartzberg, P.L.4    Germain, R.N.5
  • 36
    • 16844385039 scopus 로고    scopus 로고
    • Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells
    • Ma CS, Hare NJ, Nichols KE, et al. Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. J Clin Invest. 2005;115(4):1049-1059.
    • (2005) J Clin Invest , vol.115 , Issue.4 , pp. 1049-1059
    • Ma, C.S.1    Hare, N.J.2    Nichols, K.E.3


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