Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

Authors

Mark B. Geyer, Department of Medicine (Hematology and Medical Oncology), Memorial Sloan-Kettering Cancer Center, New York, NY.
Kavita Radhakrishnan, Department of Pediatrics, University of California, San Francisco, San Francisco, CA.
Roger Giller, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
Noriko Umegaki, Department of Dermatology, Columbia University, New York, NY.
Sivan Harel, Department of Dermatology, Columbia University, New York, NY.
Maija Kiuru, Department of Medicine (Dermatology Service), Memorial Sloan-Kettering Cancer Center, New York, NY; Department of Dermatology, Weill Cornell Medical College, New York, NY.
Kimberly D. Morel, Department of Dermatology, Columbia University, New York, NY; Department of Pediatrics, Columbia University, New York, NY.
Nicole LeBoeuf, Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Jessica Kandel, Department of Surgery, The University of Chicago Medicine Comer Children's Hospital, Chicago, IL.
Anna Bruckner, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; Department of Dermatology, University of Colorado School of Medicine, Aurora, CO.
Sandra Fabricatore, Department of Pediatrics, New York Medical College, Valhalla, NY.
Mei Chen, Department of Dermatology, University of Southern California, Los Angeles, CA.
David Woodley, Department of Dermatology, University of Southern California, Los Angeles, CA.
John McGrath, Department of Genetics and Molecular Medicine, King's College, London, United Kingdom.
LeeAnn Baxter-Lowe, Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA.
Jouni Uitto, Department of Dermatology and Cutaneous Biology, The Thomas Jefferson University, Philadelphia, PA.
Angela M. Christiano, Department of Dermatology, Columbia University, New York, NY; Department of Genetics, Columbia University, New York, NY.
Mitchell S. Cairo, 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.

Author Type(s)

Faculty

DOI

10.1016/j.jpeds.2015.05.051

Journal Title

The Journal of Pediatrics

First Page

765

Last Page

9.e1

Document Type

Article

Publication Date

9-1-2015

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.

Recommended Citation

Geyer, M. B., Radhakrishnan, K., Giller, R., Umegaki, N., Harel, S., Kiuru, M., Morel, K. D., LeBoeuf, N., Kandel, J., Bruckner, A., Fabricatore, S., Chen, M., Woodley, D., McGrath, J., Baxter-Lowe, L., Uitto, J., Christiano, A. M., & Cairo, M. S. (2015). Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. The Journal of Pediatrics, 167 (3), 765-9.e1. https://doi.org/10.1016/j.jpeds.2015.05.051