Abstract
ADA2 deficiency, a recently described disease, is characterized by systemic vasculopathy and episodes of strokes. The defect is due to a loss of function mutation of CECR1 gene, codifying for Adenosine Deaminase 2 protein. This protein regulates the catabolism of extracellular adenosine, which we have recently shown is an important regulator of Class Switch Recombination in B lymphocytes. Accordingly DADA2 patients can present hypogammaglobulinemia.
Highlights
ADA2 deficiency, a recently described disease, is characterized by systemic vasculopathy and episodes of strokes
The defect is due to a loss of function mutation of CECR1 gene, codifying for Adenosine Deaminase 2 protein
This protein regulates the catabolism of extracellular adenosine, which we have recently shown is an important regulator of Class Switch Recombination in B lymphocytes
Summary
We decided to characterize peripheral B and T lymphocytes of DADA patients to directly address if ADA2 mutation affects B-cell function and in particular we focused on B cell- T cell interaction
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