Article
Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.
Molecular medicine reports - 1 Feb 2020
Zervou Maria I, Goulielmos George N, Matalliotakis Michail, Matalliotaki Charoula, Spandidos Demetrios A, Eliopoulos Elias
Abstract excerpt
Adenosine deaminase 2 (ADA2) belongs to the novel family of adenosine deaminase growth factors (ADGFs), which play an important role in tissue development. The deficiency of adenosine deaminase 2 (DADA2) is a recently recognized autosomal recessive autoinflammatory disease, characterized by various systemic vascular and inflammatory manifestations, which is associated with ADA2 mutations. Considering that a...
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