Defining a new immune deficiency syndrome: MAN2B2-CDG.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31775018.
- Also identified by DOI 10.1016/j.jaci.2019.11.016 and PMC identifier 7062559.
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Abstract
We describe the first case of MAN2B2 deficiency in a patient with immune dysregulation, developmental delay, and stroke. Altered mannosylation profile was restored in patient cells upon transduction of wild-type MAN2B2.
Medical subject headings
- Immunologic Deficiency Syndromes
- Mannosidase Deficiency Diseases
- alpha-Mannosidase