Woman beats rare disease thanks to 'genetic lottery win'

A fluke DNA mutation has beaten "astronomically low odds" to cure a woman with a rare genetic disorder.

The unnamed woman suffered from WHIM syndrome – Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome – an immunological condition that leads to recurrent infections, warts and an increased risk of cancer due to reduced numbers of white blood cells in the blood.

The 58-year-old woman was also the first person to be diagnosed with the disorder in 1964, but it was only when she took her two daughters – who both have the condition – to get tested at the US National Institute of Allergy and Infectious Diseases that doctors realised her condition had spontaneously cured decades earlier.

Medical journal Cell describes the first recorded case in which chromothripsis – usually a catastrophic medical event in which a chromosome shatters into pieces and then reassembles imperfectly – actually led to a cure.

The team traced the medical miracle back to a mutation in a bone marrow stem cell, which removed 164 genes – including the gene that caused WHIM. The stem cells eventually repopulated the patient's blood stream and cured her of the disease.

"It is really kind of remarkable, she started out as this very unlucky girl and ended up winning the lottery by having this incredibly rare event," the institute's Dr Philip Murphy told BBC News.

"She no longer has warts, is no longer [more] susceptible to infections and no longer has blood abnormalities. The odds are astronomically low."

Doctors were able to replicate the process in initial studies conducted on mice, so the genetic phenomenon may also help them find a treatment or develop more efficient ways to transplant bone marrow.

"This is an interesting tale," Prof Andrew Jackson, from the MRC Human Genetics Unit in Edinburgh, told the BBC. "Spontaneous resolution is something we wouldn't expect or hope for."