Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 370, Issue 17, Pages 1615-1625Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1302846
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Funding
- Intramural Research Program of the National Institutes of Health
- National Cancer Institute [HHSN261200800001E]
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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.
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