Understanding DADA2: Phenotypes and Therapeutic Approaches

This chapter explores the diverse phenotypes in patients with adenosine deaminase 2 deficiency, emphasizing the factors contributing to similarities and differences in symptoms. It highlights the importance of precise diagnosis, ongoing research, and potential therapies, particularly hematopoietic stem cell transplants and upcoming gene therapies. The discussion also addresses the management challenges faced by adult patients, particularly regarding stroke treatment, while fostering hope for improved outcomes through early intervention.