Onderzoek naar de pathofysiologische mechanismen in ADA2 deficiëntie

ADA2 deficiency is a rare and devastating inborn error of immunity with many ill explained features. In this study we will study metabolic impact of ADA2 deficiency. Despite anti-TNF agents being extremely efficacious in treating inflammation, they fail to reverse bone marrow failure. Moreover, TNF-agents are not 100% effective and breakthrough flares of inflammation occur. Therefore we will also investigate the potential of novel small molecule treatments, using iPSCs. As a last step, we will investigate by WES and WGS patients with DADA2 phentoype yet absent ADA2 mutations, for novel gene defects explaining the phenotype.