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: Mark B Geyer, Kavita Radhakrishnan, Roger Giller, Noriko Umegaki, Sivan Harel, Maija Kiuru, Kimberly D Morel, Nicole LeBoeuf, Jessica Kandel, Anna Bruckner, Sandra Fabricatore, Mei Chen, David Woodley, John McGrath, LeeAnn Baxter-Lowe, Jouni Uitto, Angela M Christiano, Mitchell S Cairo
• Journal: The Journal of pediatrics (J Pediatr) Vol. 167 Issue 3 Pg. 765-9.e1 (Sep 2015) ISSN: 1097-6833 [Electronic] United States
• PMID: 26148662 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• Antibodies, Monoclonal, Humanized
• COL7A1 protein, human
• Collagen Type VII
• Immunosuppressive Agents
• Myeloablative Agonists
• RNA, Messenger
• Alemtuzumab
• Vidarabine
• Busulfan
• fludarabine

Topics

• Alemtuzumab
• Antibodies, Monoclonal, Humanized (therapeutic use)
• Busulfan (therapeutic use)
• Child
• Collagen Type VII (genetics, metabolism)
• Epidermolysis Bullosa Dystrophica (genetics, therapy)
• Epithelial Cells (metabolism)
• Fibroblasts (metabolism)
• Hematopoietic Stem Cell Transplantation
• Humans
• Immunosuppressive Agents (therapeutic use)
• Infant
• Male
• Mutation
• Myeloablative Agonists (therapeutic use)
• RNA, Messenger (metabolism)
• Transplantation Conditioning
• Transplantation, Homologous
• Vidarabine (analogs & derivatives, therapeutic use)