ImmunologybioRxivPreprint
Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
L. Ehlers, M. Wouters, A. Hombrouck…·I. Meyts
The paper identifies an intracellular hypoglycosylated form of ADA2 absent in DADA2 patients, linking its absence to reduced deaminase activity and variant pathogenicity.
DOI 10.1101/2023.10.25.564037