Deficiency of Adenosine Deaminase 2 (DADA 2)

Dr. Pui Y. Lee, a pediatric rheumatologist at Boston Children's Hospital and assistant professor at Harvard Medical School, shares his expertise on Deficiency of Adenosine Deaminase 2 (DADA2). He discusses the rarity of this hereditary auto-inflammatory disease and its diverse symptoms. The conversation dives into the significance of genetic testing and the challenges in diagnosis and treatment, including the ethical concerns surrounding pre-symptomatic care. Lee highlights innovative treatments like gene therapy and the importance of collaborative care for better patient outcomes.