Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

Publication date: Available online 21 June 2018
Source:Journal of Allergy and Clinical Immunology
Author(s): Pui Y. Lee, Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, Natalia Sampaio Moura, Ottavia M. Delmonte, Scellig S. Stone, Michael J. Rivkin, Sung-Yun Pai, Todd Lyons, Robert P. Sundel, Victor W. Hsu, Luigi D. Notarangelo, Ivona Aksentijevich, Peter A. Nigrovic
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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