Tag: <span>lethal STAT1 gene mutation</span>

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World first: Stem cell treatment for lethal STAT1 gene mutation shows ‘disappointing,’ but promising results

The first ever study assessing how patients with “gain of function” mutation of the STAT1 gene respond to stem cell transplantation has taken place. It involved 15 young patients, from nine different countries, each suffering a range of complications caused by the gene’s mutation. Of these, only six survived a regime of stem cell transplantation...

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Stem cell treatment for lethal STAT1 gene mutation produces mixed results

One example of STAT1 GOF Mutation phenotype.    Researchers report the first-ever study assessing how patients with “gain of function” mutation of the STAT1 gene respond to stem cell transplantation. It involved 15 young patients from nine different countries, each suffering a range of complications caused by the gene’s mutation. Of these, only six survived...