Woman's rare disease cured by lucky DNA mutation

LONDON: In a "medical miracle", a fluke DNA mutation cured a woman in her thirties of a rare disease that caused her to develop infections and uncontrolled warts, scientists say.

The woman, now in her 50s, who is not being named, was plagued by warts and infections as part of "WHIM syndrome" — caused by a defective immune system.

Doctors said a fluke DNA mutation effectively cured her in her thirties, adding that the odds of it happening were "astronomically low".

Patients with WHIM syndrome have a defect in a single section of their DNA. The patients are left incredibly vulnerable to infection, particularly the human papillomavirus that leads to warts and an increased risk of cancer.

The woman was the first identified case of WHIM syndrome more than 50 years ago. At the age of 58, she sought out a team of researchers at the US National Institute of Allergy and Infectious Diseases to get her daughters tested.

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She had passed the condition down to two of her daughters but said her warts had disappeared 20 years ago, BBC reported.

The cure was traced back to a mutation in a single cell in her bone marrow.

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An event called "chromosomal shattering" in which a part of the DNA is rearranged led to 164 genes being lopped out of her DNA, according to a report in the journal Cell.

This included the mutated one that was causing the problem.

"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," said Dr Philip Murphy.

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

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