Functional Characterization of SIT1 in T Cell Activation and Immune Synapse Formation

Identifier:  TFG:10093

Handle: https://hdl.handle.net/20.500.11797/TFG10093

Authors:  Calatayud Doménech, Vanessa

Abstract:
Inborn Errors of Immunity (IEIs) are genetic disorders that disrupt the normal functioning of the immune system, often impairing processes as T-cell activation. This study aims to identify the effects of the transmembrane adaptor protein deficiency in T-cell activation in humans using cells from a patient with a total loss-of-function genetic variation. To achieve this objective, immunocytochemistry and western blot techniques were employed to compare the patient’s cellular profile with that of healthy controls. The deficiency was studied through the dynamics of T-cell receptor microclusters, focusing on their formation, vesicle-mediated transport, and recruitment of proteins involved in the activation signalling.