DADA2 and ADA2 biology

Deficiency of Adenosine Deaminase 2 (DADA2) is a rare, monogenic disease that was first discovered in 2014 in children with a medium sized vessel vasculitis resembling polyarteritis nodosa. Since, the clinical spectrum has expanded to include early-onset stroke, systemic inflammation, immune deficiency, and hematological insufficiency.

In 2019, the Brown Lab identified nine children with DADA2, and four variants in the adenosine deaminase 2 (ADA2) gene of novel association with the disease. Although the clinical features of DADA2 suggest roles for ADA2 in various aspects of immunity, these roles are not yet fully understood and are a subject of debate. 

We are using human cell lines and primary human hematopoietic stem cells to address gaps in our understanding of ADA2 biology in the context of blood vessel integrity, hematopoiesis, and immunity. We are particularly interested in determining if the location of mutations in the ADA2 gene/protein has differential impacts on function that can inform the breadth of clinical features in DADA2.

Chronic Primary Vasculitis

Autoinflammatory Diseases

DADA2 and ADA2 Biology

Neutrophils in Inflammation