title: Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports.
abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis. Children present with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias. Recent advances show efficacy of treatment with immunosuppressive drugs. Sirolimus, an mammalian target of rapamycin inhibitor, improves autoimmune cytopenias and lymphoproliferation, with a safe profile. We present 2 patients, a 5-year-old girl and 15-year-old boy, diagnosed with ALPS with initial partial response to steroid treatment. Autoimmune cytopenias and lymphoproliferation then became refractory to treatment, with recurrence of symptoms. In both cases, treatment with sirolimus was started, with a rapid response, complete remission of cytopenias, and resolution of lymphoproliferation, with no significant adverse effects.
  
  
  
  sirolimus is an effective and safe drug for controlling children with cytopenias and lymphoproliferation linked to ALPS.
authors.affiliation: Department of Pediatric Hematology-Oncology, Gregorio Marañón Children's Hospital, Biomedical Research Institute, Madrid, Spain.
authors.forename: Julie
authors.initials: J
authors.lastname: Cayrol
authors.forename: Carmen
authors.initials: C
authors.lastname: Garrido Colino
mesh_terms: D000293:Adolescent; D056735:Autoimmune Lymphoproliferative Syndrome / Q000188:drug therapy*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000188:drug therapy; D008297:Male; D010198:Pancytopenia / Q000188:drug therapy*; D020123:Sirolimus / Q000008:administration & dosage* / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D020123:Sirolimus