Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation

•CREBBP gene disruption leads to low expression of CREB, NFκB, c-Jun, c-Fos, Myc and BCL2.•The CREBBP gene is essential for the normal expression of these proteins.•The disruption of the CREBBP suggests immune dysregulation in Rubinstein Taybi syndrome patient.

Genomic aberrations in theCREBBP (CREB-binding protein – CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). In this study, the disruption of the CREBBP gene on chromosome 16p13.3, as revealed by CGH-array and FISH, suggests immune dysregulation in a patient with the Rubinstein Taybi syndrome (RTs) phenotype. Further investigation with Western blot techniques demonstrated decreased expression of CREB, NFκB, c-Jun, c-Fos, BCL2 and cMyc in peripheral blood mononuclear cells, thus indicating that the CREBBP gene is essential for the normal expression of these proteins and the regulation of immune responses.