title: Diffuse large B-cell non-Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome.
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.
authors.affiliation: Department of Clinical Immunology and Haematology, Hôpital Saint-Louis, Paris, France. emmanuelle.boulager@sls.sp-hop-paris.fr
authors.forename: E
authors.initials: E
authors.lastname: Boulanger
authors.forename: F
authors.initials: F
authors.lastname: Rieux-Laucat
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.forename: M
authors.initials: M
authors.lastname: Legall
authors.forename: F
authors.initials: F
authors.lastname: Sigaux
authors.forename: J P
authors.initials: JP
authors.lastname: Clauvel
authors.forename: E
authors.initials: E
authors.lastname: Oksenhendler
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: V
authors.initials: V
authors.lastname: Meignin
mesh_terms: D000328:Adult; D018951:Antigens, CD20 / Q000032:analysis; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D017209:Apoptosis; D001327:Autoimmune Diseases / Q000150:complications* / Q000188:drug therapy / Q000276:immunology; D001365:Axilla; D015415:Biomarkers / Q000032:analysis; D001853:Bone Marrow / Q000276:immunology; D006801:Humans; D007150:Immunohistochemistry; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008198:Lymph Nodes / Q000276:immunology; D016393:Lymphoma, B-Cell / Q000150:complications* / Q000188:drug therapy / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000188:drug therapy / Q000276:immunology; D008297:Male; D008727:Methotrexate / Q000627:therapeutic use; D016254:Mutagenesis, Insertional; D009479:Neuropeptides / Q000235:genetics; D016133:Polymerase Chain Reaction; D018124:Receptors, Tumor Necrosis Factor; D013601:T-Lymphocytes / Q000187:drug effects / Q000473:pathology; D019014:fas Receptor / Q000494:pharmacology
chemical_list: D018951:Antigens, CD20; D015415:Biomarkers; C491901:FAS protein, human; D007166:Immunosuppressive Agents; D009479:Neuropeptides; D018124:Receptors, Tumor Necrosis Factor; D019014:fas Receptor; D008727:Methotrexate