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- W2114850215 abstract "Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR4. In this patient, deletion of the disease allele, CXCR4(R334X), as well as 163 other genes from one copy of chromosome 2 occurred in a hematopoietic stem cell (HSC) that repopulated the myeloid but not the lymphoid lineage. In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure. Our findings suggest that partial inactivation of CXCR4 may have general utility as a strategy to promote HSC engraftment in transplantation." @default.
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- W2114850215 date "2015-02-01" @default.
- W2114850215 modified "2023-10-13" @default.
- W2114850215 title "Chromothriptic Cure of WHIM Syndrome" @default.
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- W2114850215 doi "https://doi.org/10.1016/j.cell.2015.01.014" @default.
- W2114850215 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4329071" @default.
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