STAT1 gain of function mutation leads to an immunodeficiency/autoimmune like state with increased susceptibility to fungal infections such as Candida, viral infections including herpes simplex encephalitis and bacterial infections such as tuberculosis. Current medications to treat the infections do not address the mutation and immunosuppressive medications such as steroids actually worsen the disease by damaging the already frail immune system. Hematopoietic stem cell transplant (HSCT) can cure severe STAT1 gene mutation but results could be disappointing if many of the limiting factors are not addressed according to the team of scientists.

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