Title

Defining a new immune deficiency syndrome: MAN2B2-CDG

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date

2020-03-01

Document Type

Letter to the Editor

Disciplines

Allergy and Immunology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Immune System Diseases | Immunology and Infectious Disease | Medical Immunology | Pediatrics

Abstract

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 ...

DOI of Published Version

10.1016/j.jaci.2019.11.016

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

Journal/Book/Conference Title

The Journal of allergy and clinical immunology

Comments

Full list of authors omitted for brevity. For full list see article.

Related Resources

Link to Article in PubMed

PubMed ID

31775018

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