Cell signaling and regulation of gene expression in immunodeficiencies and autoimmune diseases

Primary immunodeficiencies are genetic disorders that impact on the immune system due to defective function of a variety of genes. Among those molecules are adaptors, enzymes and transcription factors that are involved in cell signaling, regulate gene expression and orchestrate the overall cell responses and cell-cell interactions during immune development and activation. Moreover, secondary immunodeficiencies, including immunosuppressive drugs and HIV can interfere with immune cell signaling and downstream gene targets. On the other hand, autoimmune diseases involve complex interactions between genetic predispositions and environmental factors that lead to altered gene expression via epigenetic mechanisms. Common examples include rheumatoid arthritis, multiple sclerosis, type 1 diabetes, as well as Inflammatory Bowel Disease, a chronic inflammatory condition that includes Crohn's disease and Ulcerative colitis. It is of outmost interest the understanding of the molecular mechanisms that underlie the development of these diseases and can be utilized for therapeutic development.Immunodeficiencies and autoimmune diseases represent a scientific area that attracts mainly observational and clinical investigation studies that are usually restricted to genetic analysis. There are very few studies that delve in the molecular pathways that regulate cell-specific functions utilizing patient-derived cells and in vitro methodologies. It is very clear that there is a need to expand and develop further basic research in relation to human diseases, by utilizing human cells, tissue models and possibly Artificial Intelligence, such as Digital Twin analysis, that can be developed to mimic the real situation. All these experimental approaches could effectively contribute to the development of novel therapeutic approaches.In this Research Topic, we welcome the submission of original research and review articles that address the following subthemes:• Functional analysis of lymphocytes in immunodeficiencies and autoimmune diseases • Functional analysis of innate immune cells in immunodeficiencies and autoimmune diseases • Cell signaling pathways and gene expression• Novel cell-based and other therapeutic approaches• Artificial Intelligence in diagnosis and treatment of immunodeficiencies and autoimmune diseasesTopic Editor Eleni Papanikolaou is employed by Miltenyi Biotec. The Topic Editors have no other potential conflict of interest to declare. Topic editors: Stamatia Papoutsopoulou, Eleni Papanikolaou Source: https://www.frontiersin.org/research-topics/77309/cell-signaling-and-regulation-of-gene-expression-in-immunodeficiencies-and-autoimmune-diseases