메뉴 건너뛰기




Volumn 118, Issue 18, 2011, Pages 4798-4807

Asurvey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

(22)  Neven, Bénédicte a,b   Magerus Chatinet, Aude a,b   Florkin, Benoit c   Gobert, Delphine a,b   Lambotte, Olivier d   De Somer, Lien e   Lanzarotti, Nina a   Stolzenberg, Marie Claude a   Bader Meunier, Brigitte a   Aladjidi, Nathalie f   Chantrain, Christophe g   Bertrand, Yves h   Jeziorski, Eric i   Leverger, Guy j   Michel, Gérard k   Suarez, Felipe a   Oksenhendler, Eric l   Hermine, Olivier a,b   Blanche, Stéphane a   Picard, Capucine a,b,m   more..


Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; CD20 ANTIBODY; FAS ANTIGEN; MERCAPTOPURINE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; RAPAMYCIN; STEROID; FAS PROTEIN, HUMAN;

EID: 80855128784     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-04-347641     Document Type: Review
Times cited : (145)

References (37)
  • 1
    • 0014097538 scopus 로고
    • Chronic lymphadenopathy simulating malignant lymphoma
    • Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr. 1967;70(6):891-899.
    • (1967) J Pediatr , vol.70 , Issue.6 , pp. 891-899
    • Canale, V.C.1    Smith, C.H.2
  • 2
    • 0035412359 scopus 로고    scopus 로고
    • The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis
    • Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001;98(1):194-200.
    • (2001) Blood , vol.98 , Issue.1 , pp. 194-200
    • Straus, S.E.1    Jaffe, E.S.2    Puck, J.M.3
  • 3
    • 0026758658 scopus 로고
    • A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease
    • Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/ autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest. 1992;90(2):334-341.
    • (1992) J Clin Invest , vol.90 , Issue.2 , pp. 334-341
    • Sneller, M.C.1    Straus, S.E.2    Jaffe, E.S.3
  • 4
    • 0038054540 scopus 로고    scopus 로고
    • Cell-death signaling and human disease
    • DOI 10.1016/S0952-7915(03)00042-6
    • Rieux-Laucat F, Fischer A, Deist FL. Cell-death signaling and human disease. Curr Opin Immunol. 2003;15(3):325-331. (Pubitemid 36645110)
    • (2003) Current Opinion in Immunology , vol.15 , Issue.3 , pp. 325-331
    • Rieux-Laucat, F.1    Fischer, A.2    Le, D.F.3
  • 5
    • 64049096371 scopus 로고    scopus 로고
    • FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function
    • Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, et al. FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood. 2009;113(13):3027-3030.
    • (2009) Blood , vol.113 , Issue.13 , pp. 3027-3030
    • Magerus-Chatinet, A.1    Stolzenberg, M.C.2    Loffredo, M.S.3
  • 6
    • 0029025441 scopus 로고
    • Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
    • Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81(6):935-946.
    • (1995) Cell , vol.81 , Issue.6 , pp. 935-946
    • Fisher, G.H.1    Rosenberg, F.J.2    Straus, S.E.3
  • 7
    • 0029006893 scopus 로고
    • Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity
    • Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995;268:1347-1349.
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1    Le Deist, F.2    Hivroz, C.3
  • 8
    • 0029802697 scopus 로고    scopus 로고
    • Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity
    • DOI 10.1056/NEJM199611283352204
    • Drappa J, Vaishnaw AK, Sullivan KE, Chu J-L, Elkon KB. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med. 1996;335:1643-1649. (Pubitemid 26392729)
    • (1996) New England Journal of Medicine , vol.335 , Issue.22 , pp. 1643-1649
    • Drappa, J.1    Vaishnaw, A.K.2    Sullivan, K.E.3    Chu, J.-L.4    Elkon, K.B.5
  • 10
    • 77954661589 scopus 로고    scopus 로고
    • Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome
    • Dowdell KC, Niemela JE, Price S, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010;115(25):5164-5169.
    • (2010) Blood , vol.115 , Issue.25 , pp. 5164-5169
    • Dowdell, K.C.1    Niemela, J.E.2    Price, S.3
  • 11
    • 18544383460 scopus 로고    scopus 로고
    • Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
    • Chun HJ, Zheng L, Ahmad M, et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature. 2002;419(6905):395-399.
    • (2002) Nature , vol.419 , Issue.6905 , pp. 395-399
    • Chun, H.J.1    Zheng, L.2    Ahmad, M.3
  • 12
    • 0033538475 scopus 로고    scopus 로고
    • Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II
    • DOI 10.1016/S0092-8674(00)80605-4
    • Wang J, Zheng L, Lobito A, et al. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999;98(1):47-58. (Pubitemid 29331195)
    • (1999) Cell , vol.98 , Issue.1 , pp. 47-58
    • Wang, J.1    Zheng, L.2    Lobito, A.3    Chan, F.K.-M.4    Dale, J.5    Sneller, M.6    Yao, X.7    Puck, J.M.8    Straus, S.E.9    Lenardo, M.J.10
  • 15
    • 79953124749 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation
    • Takagi M, Shinoda K, Piao J, et al. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011;117(10):2887-2890.
    • (2011) Blood , vol.117 , Issue.10 , pp. 2887-2890
    • Takagi, M.1    Shinoda, K.2    Piao, J.3
  • 16
    • 79953113625 scopus 로고    scopus 로고
    • Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis
    • Niemela JE, Lu L, Fleisher TA, et al. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood. 2011;117(10):2883-2886.
    • (2011) Blood , vol.117 , Issue.10 , pp. 2883-2886
    • Niemela, J.E.1    Lu, L.2    Fleisher, T.A.3
  • 17
    • 77957746866 scopus 로고    scopus 로고
    • Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: Report from the 2009 NIH International Workshop
    • Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop. Blood. 2010;116(14):e35-e40.
    • (2010) Blood , vol.116 , Issue.14
    • Oliveira, J.B.1    Bleesing, J.J.2    Dianzani, U.3
  • 19
    • 78650948664 scopus 로고    scopus 로고
    • Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation
    • Magerus-Chatinet A, Neven B, Stolzenberg MC, et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest. 2011;121(1):106-112.
    • (2011) J Clin Invest , vol.121 , Issue.1 , pp. 106-112
    • Magerus-Chatinet, A.1    Neven, B.2    Stolzenberg, M.C.3
  • 20
    • 0030583369 scopus 로고    scopus 로고
    • Clinical, immunological, and pathological consequences of Fas-deficient conditions
    • DOI 10.1016/S0140-6736(96)02293-3
    • Le Deist F, Emile JF, Rieux-Laucat F, et al. Clinical, immunological, and pathological consequences of fas-deficient conditions. Lancet. 1996;348(9029):719-723. (Pubitemid 26302308)
    • (1996) Lancet , vol.348 , Issue.9029 , pp. 719-723
    • Le, D.F.1    Emile, J.-F.2    Rieux-Laucat, F.3    Benkerrou, M.4    Roberts, I.5    Brousse, N.6    Fischer, A.7
  • 23
    • 0030952229 scopus 로고    scopus 로고
    • Missense mutations in the fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis
    • Bettinardi A, Brugnoni D, Quiros-Roldan E, et al. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood. 1997;89(3):902-909. (Pubitemid 27121283)
    • (1997) Blood , vol.89 , Issue.3 , pp. 902-909
    • Bettinardi, A.1    Brugnoni, D.2    Quiros-Roldan, E.3    Malagoli, A.4    La, G.S.5    Correra, A.6    Notarangelo, L.D.7
  • 24
    • 67650496601 scopus 로고    scopus 로고
    • Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)
    • Rao VK, Price S, Perkins K, et al. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer. 2009;52(7):847-852.
    • (2009) Pediatr Blood Cancer , vol.52 , Issue.7 , pp. 847-852
    • Rao, V.K.1    Price, S.2    Perkins, K.3
  • 27
    • 1342305307 scopus 로고    scopus 로고
    • The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood
    • DOI 10.1007/s10067-003-0830-2
    • Deutsch M, Tsopanou E, Dourakis SP. The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. Clin Rheumatol. 2004;23(1):43-44. (Pubitemid 38247971)
    • (2004) Clinical Rheumatology , vol.23 , Issue.1 , pp. 43-44
    • Deutsch, M.1    Tsopanou, E.2    Dourakis, S.P.3
  • 28
    • 0025875259 scopus 로고
    • Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease
    • Cohen PL, Eisenberg RA. Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol. 1991;9:243-269.
    • (1991) Annu Rev Immunol , vol.9 , pp. 243-269
    • Cohen, P.L.1    Eisenberg, R.A.2
  • 29
    • 0026568919 scopus 로고
    • Lymphoproliferation disorder in mice explained by defect in Fas antigen that mediates apoptosis
    • Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S. Lymphoproliferation disorder in mice explained by defect in Fas antigen that mediates apoptosis. Nature. 1992;356:314-317.
    • (1992) Nature , vol.356 , pp. 314-317
    • Watanabe-Fukunaga, R.1    Brannan, C.I.2    Copeland, N.G.3    Jenkins, N.A.4    Nagata, S.5
  • 30
    • 0028223847 scopus 로고
    • Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand
    • DOI 10.1016/0092-8674(94)90375-1
    • Takahashi T, Tanaka M, Brannan CI, et al. Generalized lymphoproliferative disease in mice, caused by a point mutation in the FAS ligand. Cell. 1994;76:969-976. (Pubitemid 24106378)
    • (1994) Cell , vol.76 , Issue.6 , pp. 969-976
    • Takahashi, T.1    Tanaka, M.2    Brannan, C.I.3    Jenkins, N.A.4    Copeland, N.G.5    Suda, T.6    Nagata, S.7
  • 31
    • 70449719356 scopus 로고    scopus 로고
    • Human TCR-alpha beta+ CD4- CD8- T cells can derive from CD8+ T cells and display an inflammatory effector phenotype
    • Crispín JC, Tsokos GC. Human TCR-alpha beta+ CD4- CD8- T cells can derive from CD8+ T cells and display an inflammatory effector phenotype. J Immunol. 2009;183(7):4675-4681.
    • (2009) J Immunol , vol.183 , Issue.7 , pp. 4675-4681
    • Crispín, J.C.1    Tsokos, G.C.2
  • 32
    • 33644821878 scopus 로고    scopus 로고
    • Causes and consequences of the autoimmune lymphoproliferative syndrome
    • DOI 10.1080/10245330500329094, PII G0634306419820
    • Rao VK, Straus SE. Causes and consequences of the autoimmune lymphoproliferative syndrome. Hematology. 2006;11(1):15-23. (Pubitemid 43354955)
    • (2006) Hematology , vol.11 , Issue.1 , pp. 15-23
    • Rao, V.K.1    Straus, S.E.2
  • 34
    • 0345268674 scopus 로고    scopus 로고
    • FAS gene mutation in a case of autoimmune lymphoproliferative syndrome type IA with accumulation of gammadelta+ T cells
    • DOI 10.1097/00000478-200304000-00017
    • van den Berg A, Tamminga R, de Jong D, Maggio E, Kamps W, Poppema S. FAS gene mutation in a case of autoimmune lymphoproliferative syndrome type IA with accumulation of gammadelta+ T cells. Am J Surg Pathol. 2003;27(4):546-553. (Pubitemid 36368555)
    • (2003) American Journal of Surgical Pathology , vol.27 , Issue.4 , pp. 546-553
    • Van Den, B.A.1    Tamminga, R.2    De Jong, D.3    Maggio, E.4    Kamps, W.5    Poppema, S.6
  • 36
    • 0035889162 scopus 로고    scopus 로고
    • Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome
    • Bleesing JJ, Brown MR, Straus SE, et al. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood. 2001;98(8):2466-2473.
    • (2001) Blood , vol.98 , Issue.8 , pp. 2466-2473
    • Bleesing, J.J.1    Brown, M.R.2    Straus, S.E.3
  • 37
    • 1542509675 scopus 로고    scopus 로고
    • Sex ratio and rheumatic disease
    • DOI 10.1016/S1568-9972(02)00034-4, PII S1568997202000344
    • Lockshin MD. Sex ratio and rheumatic disease. Autoimmun Rev. 2002;1(3):162-167. (Pubitemid 38340267)
    • (2002) Autoimmunity Reviews , vol.1 , Issue.3 , pp. 162-167
    • Lockshin, M.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.