DEFB1 and Timothy syndrome: Among them, the immune response in Xp TS patients was significantly inhibited, with 8 of the 11 genes that enriched in this term downregulated, including CCL25, IL21, CSF2, IL5, IL1R2, OSM, DEFB1, and IL2. KEGG analysis results revealed that DEIRGs in Xm TS patients were involved in Cytokine-cytokine receptor interaction, Hematopoietic cell lineage, Jak-STAT signaling pathway, Pathways in cancer and Chemokine signaling pathway (Figure 4A).