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Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis

Pronk, Kees-Jan LU ; Turkiewicz, Dominik; Vult von Steyern, Kristina LU ; Ehinger, Mats LU ; Dykes, Josefina LU and Toporski, Jacek LU (2017) In Journal of Bone and Mineral Research 32(1). p.82-85
Abstract

In osteopetrosis, osteoclast dysfunction can lead to deafness, blindness, bone marrow failure, and death. Hematopoietic cell transplantation (HCT) is currently the only curative treatment, but outcome remains disappointing. Although a rapid progression toward HCT is detrimental to prevent further progress of disease manifestations, 70% of cases lack an HLA-matched sibling and require alternative stem cell sources. We present two cases of osteopetrosis that successfully received an HCT with haploidentical TcRαβ-depleted cells from one of the parents. These cases showed no further disease progression, had restoration of functional osteoclasts, and illustrate this approach to enable prompt HCT with ready available parental donors and rapid... (More)

In osteopetrosis, osteoclast dysfunction can lead to deafness, blindness, bone marrow failure, and death. Hematopoietic cell transplantation (HCT) is currently the only curative treatment, but outcome remains disappointing. Although a rapid progression toward HCT is detrimental to prevent further progress of disease manifestations, 70% of cases lack an HLA-matched sibling and require alternative stem cell sources. We present two cases of osteopetrosis that successfully received an HCT with haploidentical TcRαβ-depleted cells from one of the parents. These cases showed no further disease progression, had restoration of functional osteoclasts, and illustrate this approach to enable prompt HCT with ready available parental donors and rapid and sustained hematological, including osteoclast, recovery.

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author
organization
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type
Contribution to journal
publication status
published
subject
keywords
HAPLOIDENTICAL, HEMATOPOIETIC CELL TRANSPLANTATION, OSTEOPETROSIS, TcRαβ-DEPLETION
in
Journal of Bone and Mineral Research
volume
32
issue
1
pages
82 - 85
publisher
AMBMR
external identifiers
  • scopus:84987681409
  • wos:000391989400010
ISSN
0884-0431
DOI
10.1002/jbmr.2921
language
English
LU publication?
yes
id
579ca972-de2c-4d42-856c-f0e6fbbe783b
date added to LUP
2016-10-07 13:31:57
date last changed
2017-09-18 11:30:49
@article{579ca972-de2c-4d42-856c-f0e6fbbe783b,
  abstract     = {<p>In osteopetrosis, osteoclast dysfunction can lead to deafness, blindness, bone marrow failure, and death. Hematopoietic cell transplantation (HCT) is currently the only curative treatment, but outcome remains disappointing. Although a rapid progression toward HCT is detrimental to prevent further progress of disease manifestations, 70% of cases lack an HLA-matched sibling and require alternative stem cell sources. We present two cases of osteopetrosis that successfully received an HCT with haploidentical TcRαβ-depleted cells from one of the parents. These cases showed no further disease progression, had restoration of functional osteoclasts, and illustrate this approach to enable prompt HCT with ready available parental donors and rapid and sustained hematological, including osteoclast, recovery.</p>},
  author       = {Pronk, Kees-Jan and Turkiewicz, Dominik and Vult von Steyern, Kristina and Ehinger, Mats and Dykes, Josefina and Toporski, Jacek},
  issn         = {0884-0431},
  keyword      = {HAPLOIDENTICAL,HEMATOPOIETIC CELL TRANSPLANTATION,OSTEOPETROSIS,TcRαβ-DEPLETION},
  language     = {eng},
  number       = {1},
  pages        = {82--85},
  publisher    = {AMBMR},
  series       = {Journal of Bone and Mineral Research},
  title        = {Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis},
  url          = {http://dx.doi.org/10.1002/jbmr.2921},
  volume       = {32},
  year         = {2017},
}