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Defining a new immune deficiency syndrome: MAN2B2-CDG
- Source :
- Journal of Allergy and Clinical Immunology, J Allergy Clin Immunol
- Publication Year :
- 2020
-
Abstract
- Summary 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.
- Subjects :
- 0301 basic medicine
Glycosylation
business.industry
Extramural
Immunology
Immune dysregulation
medicine.disease_cause
Immune deficiency syndrome
Article
carbohydrates (lipids)
03 medical and health sciences
chemistry.chemical_compound
Transduction (genetics)
030104 developmental biology
0302 clinical medicine
chemistry
Mannosylation
Immunology and Allergy
Medicine
In patient
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Journal of Allergy and Clinical Immunology, J Allergy Clin Immunol
- Accession number :
- edsair.doi.dedup.....413636bad566af86f9b95141eae74c86