In Silico Identification of Prioritized Interacting Domains in Primary Immunodeficiency Disease Causing Genes

Abstract

Abstract-Primary immunodeficiency diseases (PIDs) are complex and intrinsic genetic disorders that leads to immune dysfunction. We have developed "Resource of Asian Primary Immunodeficiency Diseases", an open access database on PIDs. In the current study, we propose a heuristic approach of PID gene mutation data analysis based on the functional domain interactions. Through this approach, a list of functionally significant domains that disrupts PID genes' protein-protein interactions(PPI) associated with disease mutation have been identified. Moreover, the domains to be associated with immune diseases and function based on observed PID gene mutations have also been prioritized for further molecular characterization of disease pathogenesis.