Timothy Syndrome, a rare multisystem disorder, causes various syndromic symptoms and requires a multiorgan approach. Timothy syndrome (TS) often manifests during the neonatal period. However, in many cases, it is diagnosed later, between the ages of 2-4 years. The objectives of our study were to investigate the relationship of Timothy Syndrome and the immune response in a cohort of children diagnosed with Timothy Syndrome, to review existing publications on genetic immunological approaches, and to discuss the available topics and priorities for researchers.