Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation

We recently reported a 59 year old female, designated WHIM-09, who was born with the rare immunodeficiency disease WHIM syndrome but underwent spontaneous phenotypic reversion as an adult. The causative WHIM mutation CXCR4(R334X) was absent in her myeloid and erythroid lineage, but present in her ly...

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Detalles Bibliográficos
Autores principales: McDermott, David H, Gao, Ji-Liang, Murphy, Philip M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2015
Materias:
Addendum
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588533/
https://www.ncbi.nlm.nih.gov/pubmed/26459672
http://dx.doi.org/10.1080/21675511.2015.1073430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588533/
https://www.ncbi.nlm.nih.gov/pubmed/26459672
http://dx.doi.org/10.1080/21675511.2015.1073430

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