A 58-year old woman with a rare disease has been miraculously cured by DNA mutation. In the middle of her illness about thirty years ago, her disease randomly subsided. Scientists remain baffled on how it had happened.
Almost 50 years ago, Dr. Wolf Zuelzer, a hematologist had a young patient suffering from a very rare immunodeficiency disease wherein she had warts all over her body, infection and severe lack of circulating white blood cells.
The woman, who was not named, was suffering from WHIM syndrome. It is a congenital immune deficiency disease that makes a person vulnerable to the Human Papilloma Virus, the pathogen behind warts, condyloma acuminate and certain cancers; neutropenia or lack of white blood cells, B-cell lymphopenia, hypogammaglobulinema-related recurrent infections and bone marrow malfunction that causes myeloid hyperplasia and apoptosis. All of these say one thing, the person has little or no ability to fight infections.
The scientists, who published her case in the journal Cell, said that DNA mutation effectively cured her when she was in her 30s. Apparently, she had undergone Chromothripsis or chromosome shattering which is one of the most harmful bodily processes that involve the total rearrangement and deletion of a person's chromosomes. It may be bad luck for others, but in her case, it was one lucky shot. Scientists paralleled her luck to a lottery win, but in terms of her health.
Dr. Philip Murray, the one who conducted the testing and the head of the Laboratory of Molecular Immunology at the National Institutes of Health., was shocked when the woman said that all her warts disappeared about 20 years ago, which is very unlikely in WHIM syndrome.
According to Medical Daily, Dr. Murray said that Chromothripsis is a condition compared to making a quilt. "You take fabric, tear it up into pieces, take the ones you like, and put them together in a newer arrangement," he explained.
"Putting all the pieces together, we think that what happened was in her thirties, one of her stem cells in her blood underwent chromothriptic event and that deleted her disease gene CXCR4," Murphy confirmed.
Hence, the deletion transformed an unhealthy WHIM cell into a healthy non-WHIM cell. When the patient had all healthy cells, her immune system was like restarted and when turned on, became normal: being able to fight infection. That is why her warts disappeared.
The woman was diagnosed about 50 years ago and now, at 58, she asked doctors to test her daughters if they have the same disorder she has before. Unfortunately, doctors confirmed that she had passed down the rare disease to two of her daughters.