Wong, Sunnie Y.
Rowe, Jared H.
Delmonte, Ottavia M.
Comeau, Anne Marie
Document TypeLetter to the Editor
KeywordsAllergy and Immunology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Immune System Diseases
Immunology and Infectious Disease
MetadataShow full item record
AbstractCongenital 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 ...
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
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/43705
Full list of authors omitted for brevity. For full list see article.