As an adult, the patient contacted NIH’s National Institute of Allergy and Infectious Diseases (NIAID) to evaluate herself and two of her children, who eventually were diagnosed with WHIM syndrome. The patient reported that her symptoms resolved in her 30s, indicating that she had maintained disease remission for nearly 20 years.
In their study, NIAID researchers identify chromothripsis, the abrupt fragmentation of a chromosome, as the reason for the cure. Such severe changes often cause cells to die, unless they confer a survival advantage, which occurs during the development of some cancers. The researchers show that chromothripsis caused a random and fortuitous deletion of the mutant CXCR4 gene in the patient. Presumably, a stem cell lacking mutant CXCR4 survived and eventually repopulated all of the patient’s neutrophils, which now appear to function normally. The study is the first to link chromothripsis to a positive outcome.
There currently are no approved treatments for WHIM syndrome, but NIAID scientists are evaluating the drug plerixafor in clinical trials with promising results. Researchers also 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.
source : http://www.sciencedaily.com/releases/2015/02/150205123020.htm