Large-Scale Gene Expression in Monogenic and Complex Genetic Diseases

Abstract

This chapter will focus on large-scale gene expression in monogenic and complex genetic diseases with an emphasis on immunological diseases. Monogenetic diseases have expanded our knowledge about the immune system and the molecular mechanisms, as well as the diseases themselves. The consequences of the underlying mutations, as determined by analyses of the transcriptome, will be the focus of this chapter. As we will see, the amount of information about the transcriptome differs with both the severity of the disease, access to affected tissues, and the availability of a mouse model system. Nonetheless, the recent advantage of single cell resolution within the transcriptome has accelerated our knowledge of gene expression due to different mutations, either monogenic or polygenic, and will provide a new basis for interrogating the immunological landscape in order to provide better diagnosis, therapy, and follow up of patients with monogenic or complex immunological disorders.