title: Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.
abstract: Recessive dystrophic epidermolysis bullosa is a severe, incurable, inherited blistering disease caused by COL7A1 mutations. Emerging evidence suggests hematopoietic progenitor cells (HPCs) can be reprogrammed into skin; HPC-derived cells can restore COL7 expression in COL7-deficient mice. We report two children with recessive dystrophic epidermolysis bullosa treated with reduced-toxicity conditioning and HLA-matched HPC transplantation.
authors.affiliation: Department of Medicine (Hematology and Medical Oncology), Memorial Sloan-Kettering Cancer Center, New York, NY.
authors.forename: Mark B
authors.initials: MB
authors.lastname: Geyer
authors.affiliation: Department of Pediatrics, University of California, San Francisco, San Francisco, CA.
authors.forename: Kavita
authors.initials: K
authors.lastname: Radhakrishnan
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
authors.forename: Roger
authors.initials: R
authors.lastname: Giller
authors.affiliation: Department of Dermatology, Columbia University, New York, NY.
authors.forename: Noriko
authors.initials: N
authors.lastname: Umegaki
authors.affiliation: Department of Dermatology, Columbia University, New York, NY.
authors.forename: Sivan
authors.initials: S
authors.lastname: Harel
authors.affiliation: Department of Medicine (Dermatology Service), Memorial Sloan-Kettering Cancer Center, New York, NY; Department of Dermatology, Weill Cornell Medical College, New York, NY.
authors.forename: Maija
authors.initials: M
authors.lastname: Kiuru
authors.affiliation: Department of Dermatology, Columbia University, New York, NY; Department of Pediatrics, Columbia University, New York, NY.
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Morel
authors.affiliation: Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
authors.forename: Nicole
authors.initials: N
authors.lastname: LeBoeuf
authors.affiliation: Department of Surgery, The University of Chicago Medicine Comer Children's Hospital, Chicago, IL.
authors.forename: Jessica
authors.initials: J
authors.lastname: Kandel
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; Department of Dermatology, University of Colorado School of Medicine, Aurora, CO.
authors.forename: Anna
authors.initials: A
authors.lastname: Bruckner
authors.affiliation: Department of Pediatrics, New York Medical College, Valhalla, NY.
authors.forename: Sandra
authors.initials: S
authors.lastname: Fabricatore
authors.affiliation: Department of Dermatology, University of Southern California, Los Angeles, CA.
authors.forename: Mei
authors.initials: M
authors.lastname: Chen
authors.affiliation: Department of Dermatology, University of Southern California, Los Angeles, CA.
authors.forename: David
authors.initials: D
authors.lastname: Woodley
authors.affiliation: Department of Genetics and Molecular Medicine, King's College, London, United Kingdom.
authors.forename: John
authors.initials: J
authors.lastname: McGrath
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA.
authors.forename: LeeAnn
authors.initials: L
authors.lastname: Baxter-Lowe
authors.affiliation: Department of Dermatology and Cutaneous Biology, The Thomas Jefferson University, Philadelphia, PA.
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.affiliation: Department of Dermatology, Columbia University, New York, NY; Department of Genetics, Columbia University, New York, NY.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
authors.affiliation: Department of Pediatrics, New York Medical College, Valhalla, NY; Department of Medicine, New York Medical College, Valhalla, NY; Department of Pathology, New York Medical College, Valhalla, NY; Department of Microbiology and Immunology, New York Medical College, Valhalla, NY; Department of Cell Biology and Anatomy, New York Medical College, Valhalla, NY. Electronic address: Mitchell_cairo@nymc.edu.
authors.forename: Mitchell S
authors.initials: MS
authors.lastname: Cairo
mesh_terms: D000074323:Alemtuzumab; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D002066:Busulfan / Q000627:therapeutic use; D002648:Child; D024143:Collagen Type VII / Q000235:genetics / Q000378:metabolism; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000628:therapy*; D004847:Epithelial Cells / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D008297:Male; D009154:Mutation; D019653:Myeloablative Agonists / Q000627:therapeutic use; D012333:RNA, Messenger / Q000378:metabolism; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D014740:Vidarabine / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C569053:COL7A1 protein, human; D024143:Collagen Type VII; D007166:Immunosuppressive Agents; D019653:Myeloablative Agonists; D012333:RNA, Messenger; D000074323:Alemtuzumab; D014740:Vidarabine; D002066:Busulfan; C024352:fludarabine