Glycosylation, hypogammaglobulinemia, and resistance to viral infections

N Engl J Med. 2014 Apr 24;370(17):1615-1625. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / immunology
  • Antibodies, Viral / blood
  • Child
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / immunology*
  • Congenital Disorders of Glycosylation / metabolism
  • Disease Resistance / genetics*
  • Female
  • Glycosylation
  • Humans
  • Immunoglobulins / metabolism
  • Male
  • Virus Diseases / immunology*
  • alpha-Glucosidases / genetics*

Substances

  • Antibodies, Viral
  • Immunoglobulins
  • glucosidase I
  • alpha-Glucosidases

Supplementary concepts

  • Congenital Disorder Of Glycosylation, Type IIB