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Authors
Verheijen, JanWong, Sunnie Y.
Rowe, Jared H.
Raymond, Kimiyo
Stoddard, Jennifer
Delmonte, Ottavia M.
Bosticardo, Marita
Dobbs, Kerry
Niemela, Julie
Calzoni, Enrica
Pai, Sung-Yun
Choi, Uimook
Yamazaki, Yasuhiro
Comeau, Anne Marie
Morava, Eva
Document Type
Letter to the EditorPublication Date
2020-03-01Keywords
Allergy and ImmunologyCongenital, Hereditary, and Neonatal Diseases and Abnormalities
Immune System Diseases
Immunology and Infectious Disease
Medical Immunology
Pediatrics
Metadata
Show full item recordAbstract
Congenital disorders of glycosylation (CDGs) are a group of clinically heterogeneous disorders characterized by abnormal monosaccharide activation and protein and lipid glycosylation. More than 147 CDG subtypes have currently been described to affect several glycosylation pathways, including N-glycosylation, O-glycosylation, glycosaminoglycan, dystroglycanopathy, and glycosylphosphatidylinositol (GPI)-anchor pathways. ... Here, we present the functional and metabolic studies on a patient with combined immune deficiency harboring biallelic mutations in the mannosidase alpha class 2B member 2 (MAN2B2) gene, affecting both N-glycan synthesis and glycan degradation ...Source
Verheijen J et al. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol. 2020;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. PMID: 31775018. Link to article on publisher's site
DOI
10.1016/j.jaci.2019.11.016Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43705PubMed ID
31775018Notes
Full list of authors omitted for brevity. For full list see article.
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10.1016/j.jaci.2019.11.016