Year: 2018
Type: article
Abstract: 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.
DOI: 10.1172/jci121857
Author: Hal E. Broxmeyer
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: Mechanisms of Synergistic Regulation of Stem/Progenitors, DEK Regulation of Hematopoietic Stem Cell Renewal, Fate, and Hematopoiesis, Enhancing Engraftment of Cord Blood by CD26 Inhibition, G8952826573, Controlling Influences of Oxygen Tension and CD26/DPP4 Enzymatic Activity on Regulation of Hematopoietic Stem/Progenitor Cells and Hematopoiesis During Health, Ageing, and Disease, G9000304140, Hematopoietic stem and progenitor cell regulation for enhanced clinical efficacy
OpenAlex ID: W2810065383