Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates Type I IFN responsive gene expression

Bowers SM, Sundqvist M, Dancey P, Cabral DA and Brown KL.
(2022) Frontiers Immunology. 13: 995191. doi: 10.3389/fimmu.2022.995191. PubMed