Overall, the findings showed that the PI3K-AKT-mTOR signaling pathway was fully activated in XLP-1 patients, but it was inactive or only partially activated in healthy people or HLH patients, implying that the PI3K-AKT-mTOR signaling pathway may play a role in XLP-1 pathogenesis. The gene discussed is MTOR; the disease is X-linked lymphoproliferative syndrome.