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Woman's rare disease cured by lucky dna mutation

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Woman's rare disease cured by lucky dna mutation

  1. 1. Woman's rare disease cured by lucky DNA mutation
  2. 2. Contd.. 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 was plagued by warts and infections as part of “WHIM syndrome“ -caused by a defective immune system. Patients with WHIM syndrome have a defect in a single section of their DNA. The patients are left incredibly vulnerable to infection and an increased risk of cancer. The woman was the first identified case of WHIM syndrome over 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.
  3. 3. Contd.. She had passed the condition down to two of her daughters but said her warts had disappeared 20 years ago, `BBC News' reported. The cure was traced back to a mutation in a single cell in her bone marrow. An event called “chromosomal shattering“ in which a part of the DNA is rearranged led to 164 genes being lopped out of her DNA. This included the mutated one that was causing the problem.

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