title: Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.
abstract: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, fatal autoimmune disorder caused by mutations in the FOXP3 gene leading to the disruption of signaling pathways involved in regulatory T-lymphocyte function. Lifelong multiagent immunosuppression is necessary to control debilitating autoimmune manifestations such as colitis and food allergies. Allogeneic hematopoietic stem cell transplantation (HSCT) can restore T-cell regulatory function but has been previously associated with poor outcome. We describe successful HSCT in 4 patients with IPEX syndrome using a novel reduced-intensity conditioning regimen that resulted in stable donor engraftment, reconstitution of FOXP3+ T regulatory CD4+ cells, and amelioration of gastrointestinal symptoms.
authors.affiliation: Washington University School of Medicine, St Louis Children's Hospital, Box 8116, SLCH, 1 Children's Pl, St Louis, MO 63110, USA.
authors.forename: Aarati
authors.initials: A
authors.lastname: Rao
authors.forename: Naynesh
authors.initials: N
authors.lastname: Kamani
authors.forename: Alexandra
authors.initials: A
authors.lastname: Filipovich
authors.forename: Susan Molleran
authors.initials: SM
authors.lastname: Lee
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.forename: Jignesh
authors.initials: J
authors.lastname: Dalal
authors.forename: Shalini
authors.initials: S
authors.lastname: Shenoy
mesh_terms: D000074323:Alemtuzumab; D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D000912:Antibodies, Neoplasm; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D003092:Colitis / Q000235:genetics; D004700:Endocrine System Diseases / Q000235:genetics / Q000601:surgery*; D005512:Food Hypersensitivity / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000172:deficiency; D050172:Genes, X-Linked; D006085:Graft Survival; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics / Q000601:surgery*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000601:surgery*; D007223:Infant; D007958:Leukocyte Count; D008558:Melphalan; D011183:Postoperative Complications; D012086:Reoperation; D013577:Syndrome; D019172:Transplantation Conditioning / Q000379:methods*; D014184:Transplantation, Homologous; D014740:Vidarabine / Q000031:analogs & derivatives
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D000912:Antibodies, Neoplasm; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D000074323:Alemtuzumab; D014740:Vidarabine; C024352:fludarabine; D008558:Melphalan