Reduced toxicity conditioning and allogeneic hematopoietic progenitor cell transplantation for recessive dystrophic epidermolysis bullosa Journal Article

  


Authors: 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.
Article 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. © 2015 Elsevier Inc.
Keywords: adolescent; child; preschool child; unclassified drug; gene mutation; exon; busulfan; fludarabine; case report; skin biopsy; intron; immunofluorescence; chimera; homozygosity; disease severity; hla matching; messenger rna; epithelium cell; allogeneic hematopoietic stem cell transplantation; amino acid; immunosuppressive treatment; alemtuzumab; epidermolysis bullosa dystrophica; skin cell; transmission electron microscopy; blister; hair follicle; indel mutation; recessive inheritance; consanguineous marriage; human; male; priority journal; article; collagen type 7; collagen type 7a1; reduced toxicity conditioning
Journal Title: Journal of Pediatrics
Volume: 167
Issue: 3
ISSN: 0022-3476
Publisher: Elsevier Inc.  
Date Published: 2015-09-01
Start Page: 765
End Page: 769.e1
Language: English
DOI: 10.1016/j.jpeds.2015.05.051
PROVIDER: scopus
PUBMED: 26148662
DOI/URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84940447490&partnerID=40&md5=a6f9a8ca84d017ec2a4b73e457115b0c
Notes: Export Date: 2 October 2015 -- Source: Scopus
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MSK Authors
  1. Maija H.T. Kiuru
    9 Kiuru
  2. Mark Blaine Geyer
    83 Geyer
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