메뉴 건너뛰기




Volumn 131, Issue 2, 2013, Pages 486-490

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

Author keywords

Autoimmune lymphoproliferative syndrome; diagnosis; Fas ligand

Indexed keywords

FAS LIGAND; INTERLEUKIN 10;

EID: 84873407305     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.06.011     Document Type: Article
Times cited : (47)

References (22)
  • 1
    • 0014097538 scopus 로고
    • Chronic lymphoadenopathy simulating malignant lymphoma
    • V.C. Canale, and C.H. Smith Chronic lymphoadenopathy simulating malignant lymphoma J Pediatr 70 1967 891 899
    • (1967) J Pediatr , vol.70 , pp. 891-899
    • Canale, V.C.1    Smith, C.H.2
  • 2
    • 0029006893 scopus 로고
    • Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
    • F. Rieux-Laucat, F. Le Deist, C. Hivroz, I.A. Roberts, K.M. Debatin, and A. Fischer Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity Science 268 1995 1347 1349
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1    Le Deist, F.2    Hivroz, C.3    Roberts, I.A.4    Debatin, K.M.5    Fischer, A.6
  • 3
    • 0029025441 scopus 로고
    • Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
    • G.H. Fisher, F.J. Rosenberg, S.E. Straus, J.K. Dale, L.A. Middleton, and A.Y. Lin Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome Cell 81 1995 935 946
    • (1995) Cell , vol.81 , pp. 935-946
    • Fisher, G.H.1    Rosenberg, F.J.2    Straus, S.E.3    Dale, J.K.4    Middleton, L.A.5    Lin, A.Y.6
  • 4
    • 0035412359 scopus 로고    scopus 로고
    • The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis
    • S.E. Straus, E.S. Jaffe, J.M. Puck, J.K. Dale, K.B. Elkon, and A. Rosen-Wolff The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis Blood 98 2001 194 200
    • (2001) Blood , vol.98 , pp. 194-200
    • Straus, S.E.1    Jaffe, E.S.2    Puck, J.M.3    Dale, J.K.4    Elkon, K.B.5    Rosen-Wolff, A.6
  • 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
    • A. Magerus-Chatinet, M.C. Stolzenberg, M.S. Loffredo, B. Neven, C. Schaffner, and N. Ducrot 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 113 2009 3027 3030
    • (2009) Blood , vol.113 , pp. 3027-3030
    • Magerus-Chatinet, A.1    Stolzenberg, M.C.2    Loffredo, M.S.3    Neven, B.4    Schaffner, C.5    Ducrot, N.6
  • 6
    • 0035874537 scopus 로고    scopus 로고
    • Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression
    • U. Lopatin, X. Yao, R.K. Williams, J.J. Bleesing, J.K. Dale, and D. Wong Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression Blood 97 2001 3161 3170
    • (2001) Blood , vol.97 , pp. 3161-3170
    • Lopatin, U.1    Yao, X.2    Williams, R.K.3    Bleesing, J.J.4    Dale, J.K.5    Wong, D.6
  • 7
    • 0034876118 scopus 로고    scopus 로고
    • TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis
    • J.J. Bleesing, M.R. Brown, J.K. Dale, S.E. Straus, M.J. Lenardo, and J.M. Puck TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis Clin Immunol 100 2001 314 324
    • (2001) Clin Immunol , vol.100 , pp. 314-324
    • Bleesing, J.J.1    Brown, M.R.2    Dale, J.K.3    Straus, S.E.4    Lenardo, M.J.5    Puck, J.M.6
  • 8
    • 0028980902 scopus 로고
    • Fas and Fas ligand: Lpr and gld mutations
    • S. Nagata, and T. Suda Fas and Fas ligand: lpr and gld mutations Immunol Today 16 1995 39 43
    • (1995) Immunol Today , vol.16 , pp. 39-43
    • Nagata, S.1    Suda, T.2
  • 9
    • 53349167095 scopus 로고    scopus 로고
    • Fas receptor expression in germinal-center B cells is essential for T and B lymphocyte homeostasis
    • Z. Hao, G.S. Duncan, J. Seagal, Y.W. Su, C. Hong, and J. Haight Fas receptor expression in germinal-center B cells is essential for T and B lymphocyte homeostasis Immunity 29 2008 615 627
    • (2008) Immunity , vol.29 , pp. 615-627
    • Hao, Z.1    Duncan, G.S.2    Seagal, J.3    Su, Y.W.4    Hong, C.5    Haight, J.6
  • 10
    • 60149085396 scopus 로고    scopus 로고
    • The many roles of FAS receptor signaling in the immune system
    • A. Strasser, P.J. Jost, and S. Nagata The many roles of FAS receptor signaling in the immune system Immunity 30 2009 180 192
    • (2009) Immunity , vol.30 , pp. 180-192
    • Strasser, A.1    Jost, P.J.2    Nagata, S.3
  • 11
    • 33645067636 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: Molecular basis of disease and clinical phenotype
    • A. Worth, A.J. Thrasher, and H.B. Gaspar Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype Br J Haematol 133 2006 124 140
    • (2006) Br J Haematol , vol.133 , pp. 124-140
    • Worth, A.1    Thrasher, A.J.2    Gaspar, H.B.3
  • 12
    • 0030614415 scopus 로고    scopus 로고
    • Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis
    • M.C. Sneller, J. Wang, J.K. Dale, W. Strober, L.A. Middelton, and Y. Choi Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis Blood 89 1997 1341 1348
    • (1997) Blood , vol.89 , pp. 1341-1348
    • Sneller, M.C.1    Wang, J.2    Dale, J.K.3    Strober, W.4    Middelton, L.A.5    Choi, Y.6
  • 13
    • 0037279111 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndromes: Genetic defects of apoptosis pathways
    • F. Rieux-Laucat, F. Le Deist, and A. Fischer Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways Cell Death Differ 10 2003 124 133
    • (2003) Cell Death Differ , vol.10 , pp. 124-133
    • Rieux-Laucat, F.1    Le Deist, F.2    Fischer, A.3
  • 14
    • 6844240196 scopus 로고    scopus 로고
    • Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder
    • Y. Kasahara, T. Wada, Y. Niida, A. Yachie, H. Seki, and Y. Ishida Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder Int Immunol 10 1998 195 202
    • (1998) Int Immunol , vol.10 , pp. 195-202
    • Kasahara, Y.1    Wada, T.2    Niida, Y.3    Yachie, A.4    Seki, H.5    Ishida, Y.6
  • 15
    • 0033361766 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance
    • C.E. Jackson, R.E. Fischer, A.P. Hsu, S.M. Anderson, Y. Choi, and J. Wang Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance Am J Hum Genet 64 1999 1002 1014
    • (1999) Am J Hum Genet , vol.64 , pp. 1002-1014
    • Jackson, C.E.1    Fischer, R.E.2    Hsu, A.P.3    Anderson, S.M.4    Choi, Y.5    Wang, J.6
  • 17
    • 78650948664 scopus 로고    scopus 로고
    • Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation
    • A. Magerus-Chatinet, B. Neven, M.C. Stolzenberg, C. Daussy, P.D. Arkwright, and N. Lanzarotti Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation J Clin Invest 121 2011 106 112
    • (2011) J Clin Invest , vol.121 , pp. 106-112
    • Magerus-Chatinet, A.1    Neven, B.2    Stolzenberg, M.C.3    Daussy, C.4    Arkwright, P.D.5    Lanzarotti, N.6
  • 18
    • 34547120996 scopus 로고    scopus 로고
    • Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
    • L.L. Bi, G. Pan, T.P. Atkinson, L. Zheng, J.K. Dale, and C. Makris Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib BMC Med Genet 8 2007 41
    • (2007) BMC Med Genet , vol.8 , pp. 41
    • Bi, L.L.1    Pan, G.2    Atkinson, T.P.3    Zheng, L.4    Dale, J.K.5    Makris, C.6
  • 19
    • 0029737324 scopus 로고    scopus 로고
    • Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
    • J. Wu, J. Wilson, J. He, L. Xiang, P.H. Schur, and J.D. Mountz Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease J Clin Invest 98 1996 1107 1113
    • (1996) J Clin Invest , vol.98 , pp. 1107-1113
    • Wu, J.1    Wilson, J.2    He, J.3    Xiang, L.4    Schur, P.H.5    Mountz, J.D.6
  • 20
    • 33747195012 scopus 로고    scopus 로고
    • A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome
    • M. Del-Rey, J. Ruiz-Contreras, A. Bosque, S. Calleja, J. Gomez-Rial, and E. Roldan A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome Blood 108 2006 1306 1312
    • (2006) Blood , vol.108 , pp. 1306-1312
    • Del-Rey, M.1    Ruiz-Contreras, J.2    Bosque, A.3    Calleja, S.4    Gomez-Rial, J.5    Roldan, E.6
  • 21
    • 39649120372 scopus 로고    scopus 로고
    • Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes
    • V. Mateo, M. Menager, G. de Saint-Basile, M.C. Stolzenberg, B. Roquelaure, and N. Andre Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes Blood 110 2007 4285 4292
    • (2007) Blood , vol.110 , pp. 4285-4292
    • Mateo, V.1    Menager, M.2    De Saint-Basile, G.3    Stolzenberg, M.C.4    Roquelaure, B.5    Andre, N.6
  • 22
    • 77950368803 scopus 로고    scopus 로고
    • Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome
    • e6
    • I. Caminha, T.A. Fleisher, R.L. Hornung, J.K. Dale, J.E. Niemela, and S. Price Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome J Allergy Clin Immunol 125 2010 946 949 e6
    • (2010) J Allergy Clin Immunol , vol.125 , pp. 946-949
    • Caminha, I.1    Fleisher, T.A.2    Hornung, R.L.3    Dale, J.K.4    Niemela, J.E.5    Price, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.