Immunological aspects of immunodeficiency diseases part 63

The 22q.11.2 region contains the TBX1 gene, which belongs to the T-BOX family of genes that incorporate proteins that regulate embryonic development. Patients with mutations in the TBX1 genes also develop the clinical features seen in 22q.11.2 deletion syndrome, suggesting that haplo-insufficiency of the TBX1 gene may be responsible for the clinical features seen in those with a deletion of the 22q.11.2 region.