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Glycosylation, hypogammaglobulinemia, and resistance to viral infections.


ABSTRACT: Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe hypogammaglobulinemia but limited clinical evidence of an infectious diathesis. A shortened immunoglobulin half-life was determined to be the mechanism underlying the hypogammaglobulinemia. Impaired viral replication and cellular entry may explain a decreased susceptibility to infections.

SUBMITTER: Sadat MA 

PROVIDER: S-EPMC4066413 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

Sadat Mohammed A MA   Moir Susan S   Chun Tae-Wook TW   Lusso Paolo P   Kaplan Gerardo G   Wolfe Lynne L   Memoli Matthew J MJ   He Miao M   Vega Hugo H   Kim Leo J Y LJY   Huang Yan Y   Hussein Nadia N   Nievas Elma E   Mitchell Raquel R   Garofalo Mary M   Louie Aaron A   Ireland Derek C DC   Grunes Claire C   Cimbro Raffaello R   Patel Vyomesh V   Holzapfel Genevieve G   Salahuddin Daniel D   Bristol Tyler T   Adams David D   Marciano Beatriz E BE   Hegde Madhuri M   Li Yuxing Y   Calvo Katherine R KR   Stoddard Jennifer J   Justement J Shawn JS   Jacques Jerome J   Priel Debra A Long DAL   Murray Danielle D   Sun Peter P   Kuhns Douglas B DB   Boerkoel Cornelius F CF   Chiorini John A JA   Di Pasquale Giovanni G   Verthelyi Daniela D   Rosenzweig Sergio D SD  

The New England journal of medicine 20140409 17


Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe h  ...[more]

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