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Science 2 June 1995:
Vol. 268. no. 5215, pp. 1347 - 1349
DOI: 10.1126/science.7539157

Articles

Science, Vol 268, Issue 5215, 1347-1349
Copyright © 1995 by American Association for the Advancement of Science


articles

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

F Rieux-Laucat, F Le Deist, C Hivroz, IA Roberts, KM Debatin, A Fischer, and JP de Villartay

Institut National de la Sante et de la Recherche Medicale (INSERM) U 429, Hopital Necker-Enfants Malades, Paris, France.

Fas (also known as Apo1 and CD95) is a cell surface receptor involved in apoptotic cell death. Fas expression and function were analyzed in three children (including two siblings) with a lymphoproliferative syndrome, two of whom also had autoimmune disorders. A large deletion in the gene encoding Fas and no detectable cell surface expression characterized the most affected patient. Clinical manifestations in the two related patients were less severe: Fas-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. These findings illustrate the crucial regulatory role of Fas and may provide a molecular basis for some autoimmune diseases in humans.


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   Abstract »    Full Text »    PDF »
B Cell Receptor Cross-Linking Triggers a Caspase-8- Dependent Apoptotic Pathway That Is Independent of the Death Effector Domain of Fas-Associated Death Domain Protein.
L. Besnault, N. Schrantz, M. T. Auffredou, G. Leca, M. F. Bourgeade, and A. Vazquez (2001)
J. Immunol. 167, 733-740
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Decreased Bax expression by mucosal T cells favours resistance to apoptosis in Crohn's disease.
J Itoh, C de la Motte, S A Strong, A D Levine, and C Fiocchi (2001)
Gut 49, 35-41
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Expression of Active Protein Kinase B in T Cells Perturbs Both T and B Cell Homeostasis and Promotes Inflammation.
M. J. Parsons, R. G. Jones, M.-S. Tsao, B. Odermatt, P. S. Ohashi, and J. R. Woodgett (2001)
J. Immunol. 167, 42-48
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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, A. Rosen-Wolff, A. M. J. Peters, M. C. Sneller, C. W. Hallahan, J. Wang, et al. (2001)
Blood 98, 194-200
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Lack of Coreceptor Allows Survival of Chronically Stimulated Double-Negative {alpha}/{beta} T Cells: Implications for Autoimmunity.
A. R. A. Hamad, A. Srikrishnan, P. Mirmonsef, C. P.M. Broeren, C. H. June, D. Pardoll, and J. P. Schneck (2001)
J. Exp. Med. 193, 1113-1122
   Abstract »    Full Text »    PDF »
Red blood cells inhibit activation-induced cell death and oxidative stress in human peripheral blood T lymphocytes.
A. M. Fonseca, G. Porto, K. Uchida, and F. A. Arosa (2001)
Blood 97, 3152-3160
   Abstract »    Full Text »    PDF »
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. H. Bleesing, J. K. Dale, D. Wong, J. Teruya-Feldstein, S. Fritz, M. R. Morrow, I. Fuss, et al. (2001)
Blood 97, 3161-3170
   Abstract »    Full Text »    PDF »
Impaired Fas Signaling Pathway Is Involved in Defective T Cell Apoptosis in Autoimmune Murine Arthritis.
J. Zhang, T. Bardos, K. Mikecz, A. Finnegan, and T. T. Glant (2001)
J. Immunol. 166, 4981-4986
   Abstract »    Full Text »    PDF »
Future Development of Lymphoproliferative Disorders in Patients with Autoimmune Hemolytic Anemia.
S. Sallah, J. Y. Wan, and L. R. Hanrahan (2001)
Clin. Cancer Res. 7, 791-794
   Abstract »    Full Text »
Tolerance and Autoimmunity.
T. Kamradt and N. A. Mitchison (2001)
N. Engl. J. Med. 344, 655-664
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Defective Function of Fas in Patients With Type 1 Diabetes Associated With Other Autoimmune Diseases.
S. DeFranco, S. Bonissoni, F. Cerutti, G. Bona, F. Bottarel, F. Cadario, A. Brusco, G. Loffredo, I. Rabbone, A. Corrias, et al. (2001)
Diabetes 50, 483-488
   Abstract »    Full Text »
Fas/Fas Ligand Pathway, Apoptosis, and Clonal Anergy Involved in Systemic Acetylcholine Receptor T Cell Epitope Tolerance.
C. Deng, E. Goluszko, and P. Christadoss (2001)
J. Immunol. 166, 3458-3467
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No constitutive defect in phagocytosis of apoptotic cells by resident peritoneal macrophages from pre-morbid lupus mice.
R Licht, C W. Jacobs, W J. Tax, and J H. Berden (2001)
Lupus 10, 102-107
   Abstract »    PDF »
Frequent Mutations of Fas Gene in Thyroid Lymphoma.
T. Takakuwa, Z. Dong, H. Takayama, F. Matsuzuka, S. Nagata, and K. Aozasa (2001)
Cancer Res. 61, 1382-1385
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Identification of Fas-L-Expressing Apoptotic T Lymphocytes in Normal Human Peripheral Blood : In Vivo Suicide.
G. De Panfilis, A. Caruso, P. Sansoni, G. Pasolini, D. Semenza, and C. Torresani (2001)
Am. J. Pathol. 158, 387-391
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The pre-ligand binding assembly domain: a potential target of inhibition of tumour necrosis factor receptor function.
F. K.-M. Chan (2000)
Ann Rheum Dis 59, i50-53
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Defective T cell Fas function in patients with multiple sclerosis.
C. Comi, M. Leone, S. Bonissoni, S. DeFranco, F. Bottarel, C. Mezzatesta, A. Chiocchetti, F. Perla, F. Monaco, and U. Dianzani (2000)
Neurology 55, 921-927
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Distinct Molecular Mechanisms of Fas Resistance in Murine B Lymphoma Cells.
C. M. Mueller and D. W. Scott (2000)
J. Immunol. 165, 1854-1862
   Abstract »    Full Text »    PDF »
Alloreactivity and apoptosis in graft rejection and transplantation tolerance.
N. Zavazava and D. Kabelitz (2000)
J. Leukoc. Biol. 68, 167-174
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Fas Preassociation Required for Apoptosis Signaling and Dominant Inhibition by Pathogenic Mutations.
R. M. Siegel, J. K. Frederiksen, D. A. Zacharias, F. K.-M. Chan, M. Johnson, D. Lynch, R. Y. Tsien, and M. J. Lenardo (2000)
Science 288, 2354-2357
   Abstract »    Full Text »



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