RESUMO
INTRODUCTION: A powerful adaptive immune system, which includes cellular (T lymphocytes) and humoral (B lymphocytes) immunity, depends on its ability to recognize and protect against millions of different foreign antigens. It does so through an enormous diverse array of T-cell and B-cell receptors, collectively referred to as the adaptive immune repertoire. Using high-throughput sequencing as next generation sequencing (NGS) led to multiple breakthroughs in the field of molecular medicine. It has increased our ability to characterize the immune repertoire in primary immunodeficiency (PID) and to identify defects in diversification processes among other parameters as well. Human inborn errors of immunity represent a unique genotype-phenotype model that enable the study of critical genes' and proteins' role in disease and health. Recent studies regarding immune repertoire profiling of PID allowed us to better define genotype-phenotype correlations in diseases with wide clinical spectrum, the underlining patho-mechanism causing the specific genetic disease, the common features of similar diseases as well as the unique molecular signature for each genetic disease. Immune repertoire knowledge is an integral part of PID research, and aids in improving diagnosis and designing personalized treatment. Nevertheless, NGS has created some challenges that emphasize the need for technologies such as cloud-based platforms like Kusto, enabling scalable data analysis and the incorporation of artificial intelligence techniques.
