NIH researchers describe spontaneous cure of rare immune disease

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.