Demonstrates the link between adenosine deaminase 2 mutations and clinical manifestations in DADA2, suggesting important implications for diagnosis.
Background: Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable.
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Kirchner et al. (2020) studied this question.
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