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Credit: Garvan Institute of Medical Research
Researchers at the Garvan Institute of Medical Research have discovered that three patients with a severe genetic immunodeficiency spontaneously repaired the harmful variants in their DNA and restored normal immune function over time.
As cells grow and divide to produce new cells, DNA is copied from the parent cell to provide instructions for the new daughter cells. Random changes that occur as the DNA is copied are usually harmless but in some cases are associated with the development of diseases like cancer.
However, the Garvan-led Clinical Immunogenomics Research Consortium Australasia (CIRCA) found three patients with DOCK8 deficiency had repaired the faulty genes through a rare DNA change known as somatic reversion.