Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29936104.
- Also identified by DOI 10.1016/j.jaci.2018.05.038 and PMC identifier 6175612.
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Abstract
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.
Medical subject headings
- Adenosine Deaminase
- Agammaglobulinemia
- Intercellular Signaling Peptides and Proteins
- Severe Combined Immunodeficiency