Genetic analysis identified a heterozygous GOF mutation (c.866A > G, p.Y289C) in <i>STAT1</i>.<h4>Results</h4>Various medicines were given to the boy during the follow-up, including insulin to keep blood glucose stable, intravenous immunoglobulin and antifungal agents for recurrent infections, and antituberculosis drugs (isoniazid, rifampicin) to combat tuberculosis infection. This evidence concerns the gene STAT1 and infection.