The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Chromothriptic Cure of WHIM Syndrome
Open accessAbstract
Summary 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, CXCR4R334X, 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.
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Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., & Salzberg, S. L. (2013) · Genome Biology · doi:10.1186/gb-2013-14-4-r36 · Cited by 12,668
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414
TALENs: A widely applicable technology for targeted genome editing
Joung, J. K., & Sander, J. D. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3486 · Cited by 1,650
A highly efficacious lymphocyte chemoattractant, stromal cell-derived factor 1 (SDF-1)
Bleul, C. C., Fuhlbrigge, R. C., Casasnovas, J. M., Aiuti, A., & Springer, T. A. (1996) · The Journal of experimental medicine · doi:10.1084/jem.184.3.1101 · Cited by 1,482
Hernandez, P. A., Gorlin, R. J., Lukens, J. N., Taniuchi, S., Bohinjec, J., Francois, F., Klotman, M. E., & Diaz, G. A. (2003) · Nature Genetics · doi:10.1038/ng1149 · Cited by 722 · cited 3×
“WHIM syndrome is an autosomal dominant combined primary immunodeficiency disease caused by mutations in the chemokine receptor CXCR4 (Hernandez et al., 2003).”
BackgroundMethodInfluentialHematopoietic stem cell function and survival depend on c-Myc and N-Myc activity
Laurenti, E., Varnum-Finney, B., Wilson, A., Ferrero, I., Blanco-Bose, W. E., Ehninger, A., Knoepfler, P. S., Cheng, P.-F., MacDonald, H. R., Eisenman, R. N., et al. (2008) · Cell Stem Cell · doi:10.1016/j.stem.2008.09.005 · Cited by 305
Cited by
Clonal heterogeneity and tumor evolution: past, present, and the future
McGranahan, N., & Swanton, C. (2017) · Cell · doi:10.1016/j.cell.2017.01.018 · Cited by 2,840
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396
Adult haematopoietic stem cell niches
Crane, G. M., Jeffery, E., & Morrison, S. J. (2017) · Nature Reviews Immunology · doi:10.1038/nri.2017.53 · Cited by 712
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing
Leibowitz, M. L., Papathanasiou, S., Doerfler, P. A., Blaine, L. J., Sun, L., Yao, Y., Zhang, C.-Z., Weiss, M. J., & Pellman, D. (2021) · Nature Genetics · doi:10.1038/s41588-021-00838-7 · Cited by 583
Metadata
- Authors
- McDermott, D. H., Gao, J.-L., Liu, Q., Siwicki, M., Martens, C., Jacobs, P., Velez, D., Yim, E., Bryke, C. R., Hsu, N., Dai, Z., Marquesen, M. M., Stregevsky, E., Kwatemaa, N., Theobald, N., Long Priel, D. A., Pittaluga, S., Raffeld, M. A., Calvo, K. R., Maric, I., Desmond, R., Holmes, K. L., Kuhns, D. B., Balabanian, K., Bachelerie, F., Porcella, S. F., Malech, H. L., & Murphy, P. M.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2015-02
- Volume
- 160
- Issue
- 4
- Pages
- 686-699
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2114850215
- Cited by
- 190
- References
- 6
- FWCI
- 11.27
- Type
- journal article
- Language
- en
- Open access
- bronze
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- McDermott, D. H., Gao, J.-L., Liu, Q., Siwicki, M., Martens, C., Jacobs, P., Velez, D., Yim, E., Bryke, C. R., Hsu, N., Dai, Z., Marquesen, M. M., Stregevsky, E., Kwatemaa, N., Theobald, N., Long Priel, D. A., Pittaluga, S., Raffeld, M. A., Calvo, K. R., . . . Murphy, P. M. (2015). Chromothriptic Cure of WHIM Syndrome. Cell. https://doi.org/10.1016/j.cell.2015.01.014
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