Cxcr4-haploinsufficient bone marrow transplantation corrects leukopenia in an unconditioned WHIM syndrome model
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.1172/jci120375
Abstract: For gene therapy of gain-of-function autosomal dominant diseases, either correcting or deleting the disease allele is potentially curative. To test whether there may be an advantage of one approach over the other for WHIM (warts,… read more here.
Keywords: unconditioned whim; whim syndrome; model; transplantation ... See more keywords
CRISPR/Cas9-mediated Cxcr4 Disease Allele Inactivation for Gene Therapy in a Mouse Model of WHIM Syndrome.
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DOI: 10.1182/blood.2022019142
Abstract: WHIM syndrome is an autosomal dominant immunodeficiency disorder caused by gain-of-function mutations in chemokine receptor CXCR4 that promote severe panleukopenia due to bone marrow (BM) retention of mature leukocytes. We previously reported that Cxcr4-haploinsufficient (Cxcr4+/o)… read more here.
Keywords: disease allele; allele inactivation; disease; cxcr4 ... See more keywords