PMID- 18762514
OWN - NLM
STAT- MEDLINE
DCOM- 20080916
LR  - 20080902
IS  - 1098-4275 (Electronic)
IS  - 0031-4005 (Linking)
VI  - 122
IP  - 3
DP  - 2008 Sep
TI  - First successful bone marrow transplantation for X-linked chronic granulomatous 
      disease by using preimplantation female gender typing and HLA matching.
PG  - e778-82
LID - 10.1542/peds.2008-0123 [doi]
AB  - Allogeneic hematopoietic stem cell transplantation from an human leukocyte 
      antigen (HLA)-identical donor is currently the only proven curative treatment for 
      chronic granulomatous disease. Hematopoietic stem cell transplantation with 
      alternative donors is associated with higher morbidity and mortality. Therefore, 
      we performed in vitro fertilization and preimplantation HLA matching combined 
      with female sexing for hematopoietic stem cell transplantation in chronic 
      granulomatous disease. Ethical and psychological issues were considered 
      carefully. We used in vitro fertilization with X-enriched spermatozoa followed by 
      preimplantation genetic diagnosis to identify female HLA-genoidentical embryos in 
      a family in need of a suitable donor for their boy affected with severe X-linked 
      chronic granulomatous disease. Two preimplantation genetic diagnosis cycles were 
      performed in the family. In the second cycle, 2 HLA-genoidentical female embryos 
      were transferred and a singleton pregnancy was obtained, resulting in the birth 
      of an unaffected girl at term. Because of insufficient cell numbers in the 
      cord-blood source, conventional hematopoietic stem cell transplantation had to be 
      performed at 12 months of age of the donor and 5 years of age of the recipient 
      and resulted in complete stable donor chimerism and immunologic reconstitution up 
      to 25 months post-hematopoietic stem cell transplantation. Hematopoietic stem 
      cell transplantation after in vitro fertilization and combined female sexing and 
      HLA matching offers a new and relatively rapid therapeutic option for patients 
      with X-linked primary immunodeficiency such as chronic granulomatous disease who 
      need hematopoietic stem cell transplantation but lack an HLA-genoidentical donor.
FAU - Reichenbach, Janine
AU  - Reichenbach J
AD  - University Children's Hospital Zurich, Division of Immunology/Hematology/BMT, 
      Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. janine.reichenbach@kispi.uzh.ch
FAU - Van de Velde, Hilde
AU  - Van de Velde H
FAU - De Rycke, Martine
AU  - De Rycke M
FAU - Staessen, Catherine
AU  - Staessen C
FAU - Platteau, Peter
AU  - Platteau P
FAU - Baetens, Patricia
AU  - Baetens P
FAU - Gungor, Tayfun
AU  - Gungor T
FAU - Ozsahin, Hulya
AU  - Ozsahin H
FAU - Scherer, Franziska
AU  - Scherer F
FAU - Siler, Ulrich
AU  - Siler U
FAU - Seger, Reinhard A
AU  - Seger RA
FAU - Liebaers, Inge
AU  - Liebaers I
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatrics
JT  - Pediatrics
JID - 0376422
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - Bone Marrow Transplantation/*methods
MH  - Child, Preschool
MH  - Female
MH  - Follow-Up Studies
MH  - Granulomatous Disease, Chronic/diagnosis/immunology/*surgery
MH  - HLA Antigens/*immunology
MH  - Histocompatibility Testing/*methods
MH  - Humans
MH  - Infant
MH  - Male
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Replantation/*methods
EDAT- 2008/09/03 09:00
MHDA- 2008/09/17 09:00
CRDT- 2008/09/03 09:00
PHST- 2008/09/03 09:00 [pubmed]
PHST- 2008/09/17 09:00 [medline]
PHST- 2008/09/03 09:00 [entrez]
AID - 122/3/e778 [pii]
AID - 10.1542/peds.2008-0123 [doi]
PST - ppublish
SO  - Pediatrics. 2008 Sep;122(3):e778-82. doi: 10.1542/peds.2008-0123.