[HTML][HTML] Glycosylation, hypogammaglobulinemia, and resistance to viral infections

MA Sadat, S Moir, TW Chun, P Lusso… - … England Journal of …, 2014 - Mass Medical Soc
MA Sadat, S Moir, TW Chun, P Lusso, G Kaplan, L Wolfe, MJ Memoli, M He, H Vega…
New England Journal of Medicine, 2014Mass Medical Soc
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 …
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.
The New England Journal Of Medicine