CREBBP and ataxia telangiectasia: In contrast, in AT patients, the main enriched pathways were related to regulation of binding (RIPK2, NECTIN-2), lipid transport (APOC3), I-kappaB kinase/NF-kappaB signaling (RIPK2), the regulation of synaptic long-term potentiation (PTEN), and the activation of the immune response (CREBBP), among others (Figure 3).