
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.
Male, Glycosylation, Immunoglobulins, alpha-Glucosidases, Antibodies, Viral, Congenital Disorders of Glycosylation, Agammaglobulinemia, Virus Diseases, Humans, Female, Child, Disease Resistance
Male, Glycosylation, Immunoglobulins, alpha-Glucosidases, Antibodies, Viral, Congenital Disorders of Glycosylation, Agammaglobulinemia, Virus Diseases, Humans, Female, Child, Disease Resistance
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