Media Availability: NIH Researchers Describe Spontaneous Cure of Rare Immune Disease

Media Availability: NIH Researchers Describe Spontaneous Cure of Rare Immune Disease

An image of all 46 chromosomes of the cured WHIM syndrome patient shows that one copy of chromosome 2 (red box) is significantly shorter than the other, a loss of genetic material caused by chromothripsis. As a result of this random event, the patient experienced a fortuitous deletion of a mutant copy of the gene responsible for WHIM syndrome—CXCR4—in the immune cells most affected by the mutation.
Credit: NIAID
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NIH Researchers Describe a Spontaneous Cure of WHIM Syndrome

A National Institutes of Health (NIH) study reports that the first patient documented with WHIM syndrome, a rare immune disease, experienced a spontaneous cure as a result of a genetic phenomenon called chromothripsis, or “chromosome shattering.” While chromothripsis is typically linked to negative outcomes like cancer, it likely resulted in the fortuitous deletion of the patient’s disease-causing gene.

Presumably, a stem cell lacking the disease-causing gene survived and eventually repopulated all of the patient’s neutrophils, the immune cell most affected by the mutation. Researchers are exploring how to apply the study findings to improve bone marrow transplantation, which relies on the ability of donor stem cells to repopulate in a recipient. The study appears in the February 5, 2015, online issue of Cell.