Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
Journal Article (Letter)
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.
- Lee, PY; Huang, Y; Zhou, Q; Schnappauf, O; Hershfield, MS; Li, Y; Ganson, NJ; Sampaio Moura, N; Delmonte, OM; Stone, SS; Rivkin, MJ; Pai, S-Y; Lyons, T; Sundel, RP; Hsu, VW; Notarangelo, LD; Aksentijevich, I; Nigrovic, PA
- October 2018
Volume / Issue
- 142 / 4
Start / End Page
- 1363 - 1365.e8
Pubmed Central ID
Electronic International Standard Serial Number (EISSN)
Digital Object Identifier (DOI)
- United States