ImmunologybioRxivPreprint
Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
Lisa Ehlers, Marjon Wouters, Anneleen Hombrouck…·Isabelle Meyts
The paper identifies an intracellular hypoglycosylated form of ADA2 absent in DADA2 patients, linking its absence to reduced deaminase activity and variant pathogenicity.
6 citations