First experience of hematopoietic stem cell transplantation treatment of Shwachman–Diamond syndrome using unaffected HLA–matched sibling donor produced through preimplantation HLA ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-09

AUTHORS

A A Isaev, R V Deev, A Kuliev, I L Plaxa, N V Stancheva, A S Borovkova, I V Potapov, E A Pomerantseva, A G Chogovadze, K Y Boyarsky, A E Semenenko, A V Mikhailov, K G Shevchenko, A V Prikhodko, S Rechitsky, O V Paina, I M Barchatov, L S Zubarovskaya, O Verlinsky, I Y Bozo, B V Afanasyev

ABSTRACT

The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available. As a result of PGD, two unaffected HLA matched embryos were identified; one of them was randomly selected for transfer, resulting in a clinical pregnancy and birth of an apparently healthy child. The patient underwent allogeneic transplantation of cord blood hematopoietic stem cells, together with bone marrow from this sibling, resulting in complete hemopoietic recovery. The patient was no longer transfusion-dependent and had normal blood values 160 days after transplantation. More... »

PAGES

1249-1252

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/bmt.2017.46

DOI

http://dx.doi.org/10.1038/bmt.2017.46

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084127797

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28346418


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curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/bmt.2017.46'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/bmt.2017.46'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/bmt.2017.46'


 

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325 https://www.grid.ac/institutes/grid.488884.0 schema:alternateName Human Stem Cells Institute PJSC (Russia)
326 schema:name PJSC Human Stem Cells Institute, Moscow, Russia
327 rdf:type schema:Organization
 




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