A genetic phenomenon called chromothripsis, or “chromosome shattering,” may have spontaneously cured the first person to be documented with WHIM syndrome, according to researchers at the National Institutes of Health (NIH). The patient was the subject of a 1964 study that first described the disorder, a syndrome of recurrent infections, warts and cancer caused by the inability of immune cells, particularly infection-fighting neutrophils, to leave the bone marrow and enter the bloodstream. In 2003, researchers identified the genetic mutations responsible for the disease, which occur in the CXCR4 gene.
This is 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.
McDermott DH et al. Chromothriptic Cure of WHIM Syndrome. Cell DOI:10.1016/j.cell.2015.01.014 (2015).
Philip Murphy, M.D., Section Chief, David McDermott, M.D., Staff Clinician and Ji-Liang Gao, Ph.D., Staff Scientist in the Molecular Signaling Section of NIAID’s Laboratory of Molecular Immunology