title: Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome.
abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder due to a genetic defect concerning programmed cell death (apoptosis). Most patients are carriers of a heterozygous mutation affecting the TNFRSF6 (Fas). Treatment of autoimmune complications of ALPS includes corticosteroids, gamma-globulin infusions, and in refractory cases, splenectomy, cytostatic agents, and bone marrow transplantation. A 10-year-old boy with ALPS manifested by recurrent febrile episodes, lymphadenopathy, splenomegaly, and cytopenias refractory to corticosteroid therapy is presented. Treatment with mycophenolate mofetil, an immunosuppressive agent typically used in organ transplantation was initiated. This treatment was successful with resolution of thrombocytopenia, decrease in lymphadenopathy, and improvement of his general clinical condition for over 2 years of duration.
authors.affiliation: 1st Pediatric Clinic, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Lydia
authors.initials: L
authors.lastname: Kossiva
authors.forename: Maria
authors.initials: M
authors.lastname: Theodoridou
authors.forename: Glykeria
authors.initials: G
authors.lastname: Mostrou
authors.forename: Effie
authors.initials: E
authors.lastname: Vrachnou
authors.forename: Francoise
authors.initials: F
authors.lastname: Le Deist
authors.forename: Frederick
authors.initials: F
authors.lastname: Rieux-Laucat
authors.forename: Maria G
authors.initials: MG
authors.lastname: Kanariou
mesh_terms: D000305:Adrenal Cortex Hormones / Q000008:administration & dosage / Q000009:adverse effects; D001327:Autoimmune Diseases / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D002648:Child; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage*; D008232:Lymphoproliferative Disorders / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D008297:Male; D009154:Mutation; D009173:Mycophenolic Acid / Q000008:administration & dosage / Q000031:analogs & derivatives*; D013577:Syndrome; D013921:Thrombocytopenia / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D013997:Time Factors; D019014:fas Receptor / Q000235:genetics
chemical_list: D000305:Adrenal Cortex Hormones; C491901:FAS protein, human; D007166:Immunosuppressive Agents; D019014:fas Receptor; D009173:Mycophenolic Acid