[HTML][HTML] Enhancement of stem cell engraftment on a WHIM

HE Broxmeyer - The Journal of Clinical Investigation, 2018 - Am Soc Clin Investig
The Journal of Clinical Investigation, 2018Am Soc Clin Investig
WHIM (w arts, h ypogammaglobulinemia, i nfections, and m yelokathexis) syndrome is a
genetic autoimmune disorder that results from gain-of-function mutations in the gene
encoding chemokine receptor CXCR4. A previous study characterized a patient with WHIM
who underwent a chromothriptic event that resulted in spontaneous deletion of the WHIM
allele in a single hematopoietic stem cell and subsequent cure of the disease. In this issue of
the JCI, Gao et al. extend this work and show that Cxcl4-haplosufficient bone marrow has a …
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a genetic autoimmune disorder that results from gain-of-function mutations in the gene encoding chemokine receptor CXCR4. A previous study characterized a patient with WHIM who underwent a chromothriptic event that resulted in spontaneous deletion of the WHIM allele in a single hematopoietic stem cell and subsequent cure of the disease. In this issue of the JCI, Gao et al. extend this work and show that Cxcl4-haplosufficient bone marrow has a selective advantage for long-term engraftment in murine WHIM models. Moreover, successful engraftment occurred without prior conditioning of recipients. Together, these results have important implications for improving hematopoietic stem/progenitor cell transplant not only for patients with WHIM but also for all patients who may require the procedure.
The Journal of Clinical Investigation