A fascinating article, and news to me!
A woman in her 50’s was recently cured of a very rare genetic disease, but not through medical advancements through a spontaneous genetic event. The disease she was plagued with was WHIM, an acronym where each letter refers a different symptom of the disease.
“WHIM is a genetically inherited disease where the patients symptoms include Warts, Hypogammaglobulinemia, Infections and Myelokathexis”
WHIM is caused by a mutation in the gene CXCR4, a chemokine receptor, on chromosome 2. In this particular case, the CXCR4 receptor binds to CXCL12, it’s corresponding ligand. This encourages hematopoietic stem cells (HSC) – cells that can change into any type of blood cell – to remain in the bone marrow and become dormant. Usually once blood cells are…
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