A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Abstract

We suggest assessing ADA2 activity along with genetic analysis because there are patients with one <i>ADA2</i> mutation and absent enzyme activity. Our data suggest a possible genotype-phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.