Abstract
Mutations of Fas or Fas ligand genes result in the autoimmune lymphoproliferative syndrome (ALPS) in humans. We report here a diffuse large B-cell non-Hodgkin's lymphoma occurring in a man with ALPS. Fas-mediated lymphocyte apoptosis was defective in vitro, owing to a mutation within the death domain of the Fas molecule. High-dose methotrexate and doxorubicin-based chemotherapy led to complete remission of lymphoma.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Antigens, CD20 / analysis
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Apoptosis
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Autoimmune Diseases / complications*
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Autoimmune Diseases / drug therapy
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Autoimmune Diseases / immunology
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Axilla
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Biomarkers / analysis
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Bone Marrow / immunology
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Humans
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Immunohistochemistry
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Immunosuppressive Agents / therapeutic use
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Lymph Nodes / immunology
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Lymphoma, B-Cell / complications*
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Lymphoma, B-Cell / drug therapy
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Lymphoma, B-Cell / immunology
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Lymphoproliferative Disorders / complications*
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Lymphoproliferative Disorders / drug therapy
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Lymphoproliferative Disorders / immunology
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Male
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Methotrexate / therapeutic use
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Mutagenesis, Insertional
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Neuropeptides / genetics
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Polymerase Chain Reaction
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Receptors, Tumor Necrosis Factor*
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T-Lymphocytes / drug effects
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T-Lymphocytes / pathology
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fas Receptor / pharmacology
Substances
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Antigens, CD20
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Biomarkers
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FAS protein, human
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Immunosuppressive Agents
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Neuropeptides
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Receptors, Tumor Necrosis Factor
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fas Receptor
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Methotrexate