Winning the Genetic Lottery

A fascinating article, and news to me!

The Ribosomal Reviewer

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”

Mutation of CXCR4 leads to retention of HSCs in the bone marrow. Chromothriptic deletion in HSCs leads to cure of WHIM and the development of a new immune system. Mutation of CXCR4 leads to retention of HSCs in the bone marrow. Chromothriptic deletion in HSC leads to cure of WHIM and the development of a new immune system.

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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