Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
The Journal of allergy and clinical immunology(2018)
摘要
Deficiency of adenosine deaminase 2 is characterized by vasculitis, early-onset strokes, immunodeficiency, and bone marrow failure. We describe a novel pathogenic mutation affecting a consensus N-linked glycosylation sequence and illustrate the essential role of glycosylation in the biology of ADA2.
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