Additional Pathogenic Pathways in RBCK1 Deficiency

RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and accumulation of amylopectin in skeletal muscle. The amylopectinosis myopathy cardiomyopathy. pathogenesis poorly investigated may include unnoticed relationships. We performed gene expression analysis patients with other diseases. identification differentially expressed genes revealed large number downregulated are involved activation essential metabolic immune pathways, including NF-kB Pi3k-Akt-mTOR. Signaling pathways were analysed using KEGG (Kyoto Encyclopedia Genes Genomes) Gene Ontology resource. Predicted protein-protein interactions retrieved from STRING (Search Tool for Retrieval Interacting proteins database). Besides primary involvement pathology, several aggravate symptoms myopathy, cardiomyopathy, disease. studied serve as new targets development compensatory therapies deficiency.