GSEA revealed that the intestinal immune network for IgA production, the chemokine signalling pathway, natural killer cell-mediated cytotoxicity, the B cell receptor signalling pathway, the T cell receptor signalling pathway, the Fc epsilon Ri signalling pathway, Fc gamma R-mediated phagocytosis, primary immunodeficiency, and the Toll-like receptor signal pathway was significantly downregulated in the KDM6A mutation group (Fig. 4A–I). This evidence concerns the gene KDM6A and inborn error of immunity.