Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
Publication
, Journal Article
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 ...
Published in: J Allergy Clin Immunol
October 2018
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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
J Allergy Clin Immunol
DOI
EISSN
1097-6825
Publication Date
October 2018
Volume
142
Issue
4
Start / End Page
1363 / 1365.e8
Location
United States
Related Subject Headings
- Severe Combined Immunodeficiency
- Mutation
- Intercellular Signaling Peptides and Proteins
- Humans
- Glycosylation
- Female
- Child, Preschool
- Allergy
- Agammaglobulinemia
- Adenosine Deaminase
Citation
APA
Chicago
ICMJE
MLA
NLM
Lee, P. Y., Huang, Y., Zhou, Q., Schnappauf, O., Hershfield, M. S., Li, Y., … Nigrovic, P. A. (2018). Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol, 142(4), 1363-1365.e8. https://doi.org/10.1016/j.jaci.2018.05.038
Lee, Pui Y., Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, et al. “Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.” J Allergy Clin Immunol 142, no. 4 (October 2018): 1363-1365.e8. https://doi.org/10.1016/j.jaci.2018.05.038.
Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, et al. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8.
Lee, Pui Y., et al. “Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.” J Allergy Clin Immunol, vol. 142, no. 4, Oct. 2018, pp. 1363-1365.e8. Pubmed, doi:10.1016/j.jaci.2018.05.038.
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. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8.
Published In
J Allergy Clin Immunol
DOI
EISSN
1097-6825
Publication Date
October 2018
Volume
142
Issue
4
Start / End Page
1363 / 1365.e8
Location
United States
Related Subject Headings
- Severe Combined Immunodeficiency
- Mutation
- Intercellular Signaling Peptides and Proteins
- Humans
- Glycosylation
- Female
- Child, Preschool
- Allergy
- Agammaglobulinemia
- Adenosine Deaminase