Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
L. Ehlers, M. Wouters, A. Hombrouck, B. Pillay, S. Delafontaine, G. Bucciol, M. Baggio, M. Dzhus, E. Frances Rabanal, A. Damerau, J. Neugebauer, F. Ebstein, M. Jacquemyn, L. De Somer, R. Schrijvers, , 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.
bioRxiv · Oct 25, 2023 · PreprintImmunology