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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • October 2018

Published In

Volume / Issue

  • 142 / 4

Start / End Page

  • 1363 - 1365.e8

PubMed ID

  • 29936104

Pubmed Central ID

  • PMC6175612

Electronic International Standard Serial Number (EISSN)

  • 1097-6825

Digital Object Identifier (DOI)

  • 10.1016/j.jaci.2018.05.038


  • eng

Conference Location

  • United States