PhD defence N. (Narissara) Suratannon

Below is a brief summary of the dissertation:

The field of IEI is rapidly evolving after the introduction of next-generation
sequencing (NGS) platforms, such as whole exome sequencing (WES) and whole genome sequencing (WGS). In recent years, the application of these tools has significantly increased the identification of genetic defects causing IEI. This expansion has enhanced our understanding of genotype-phenotype relationships and provided valuable pathogenetic and pathophysiological insights into IEI. However, further studies are needed to complete our understanding, especially in specific geographical populations where studies are conducted rarely such as in South-East Asia region. Furthermore, most modern genetic approaches, such as WES and WGS, are not affordable or available to a large portion of the global population, particularly in low-income developing countries. Even simple initial immunological tests such as immunoglobulin measurement, may not be accessible in such countries. Therefore, there is a need to develop or optimize accessible and affordable tests.