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Science 2 June 1995: Vol. 268. no. 5215, pp. 1347 - 1349 DOI: 10.1126/science.7539157
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Articles
Science, Vol 268, Issue 5215, 1347-1349
Copyright © 1995 by American Association for the Advancement of Science
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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- Defective Fas Ligand Expression and Activation-Induced Cell Death in the Absence of IL-2-Inducible T Cell Kinase.
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J. Immunol.
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- Resistance to Fas-Mediated Apoptosis in EBV-Infected B Cell Lymphomas Is Due to Defects in the Proximal Fas Signaling Pathway.
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167, 5404-5411
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- Cellular stress response and apoptosis in cancer therapy.
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Blood
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- Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.
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Blood
98, 2466-2473
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- Multiwavelength anomalous diffraction analysis at the M absorption edges of uranium.
- Y. Liu, C. M. Ogata, and W. A. Hendrickson (2001)
PNAS
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- Receptor-like kinases from Arabidopsis form a monophyletic gene family related to animal receptor kinases.
- S.-H. Shiu and A. B. Bleecker (2001)
PNAS
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- 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.
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J. Immunol.
167, 733-740
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- Decreased Bax expression by mucosal T cells favours resistance to apoptosis in Crohn's disease.
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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.
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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)
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- Red blood cells inhibit activation-induced cell death and oxidative stress in human peripheral blood T lymphocytes.
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Blood
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- Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression.
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Blood
97, 3161-3170
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- Impaired Fas Signaling Pathway Is Involved in Defective T Cell Apoptosis in Autoimmune Murine Arthritis.
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J. Immunol.
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- Future Development of Lymphoproliferative Disorders in Patients with Autoimmune Hemolytic Anemia.
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Clin. Cancer Res.
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- Tolerance and Autoimmunity.
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- Defective Function of Fas in Patients With Type 1 Diabetes Associated With Other Autoimmune Diseases.
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Diabetes
50, 483-488
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- Fas/Fas Ligand Pathway, Apoptosis, and Clonal Anergy Involved in Systemic Acetylcholine Receptor T Cell Epitope Tolerance.
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- No constitutive defect in phagocytosis of apoptotic cells by resident peritoneal macrophages from pre-morbid lupus mice.
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Lupus
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- Frequent Mutations of Fas Gene in Thyroid Lymphoma.
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- Identification of Fas-L-Expressing Apoptotic T Lymphocytes in Normal Human Peripheral Blood : In Vivo Suicide.
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Am. J. Pathol.
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- The pre-ligand binding assembly domain: a potential target of inhibition of tumour necrosis factor receptor function.
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Ann Rheum Dis
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- Defective T cell Fas function in patients with multiple sclerosis.
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Neurology
55, 921-927
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- Distinct Molecular Mechanisms of Fas Resistance in Murine B Lymphoma Cells.
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- Alloreactivity and apoptosis in graft rejection and transplantation tolerance.
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- Fas Preassociation Required for Apoptosis Signaling and Dominant Inhibition by Pathogenic Mutations.
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Science
288, 2354-2357
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