Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

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TitleGlycosylation, hypogammaglobulinemia, and resistance to viral infections.
Publication TypeJournal Article
Year of Publication2014
AuthorsSadat, MA, Moir, S, Chun, T-W, Lusso, P, Kaplan, G, Wolfe, L, Memoli, MJ, He, M, Vega, H, J Y Kim, L, Huang, Y, Hussein, N, Nievas, E, Mitchell, R, Garofalo, M, Louie, A, Ireland, DC, Grunes, C, Cimbro, R, Patel, V, Holzapfel, G, Salahuddin, D, Bristol, T, Adams, D, Marciano, BE, Hegde, M, Li, Y, Calvo, KR, Stoddard, J, J Justement, S, Jacques, J, Priel, DALong, Murray, D, Sun, P, Kuhns, DB, Boerkoel, CF, Chiorini, JA, Di Pasquale, G, Verthelyi, D, Rosenzweig, SD
JournalN Engl J Med
Date Published2014 Apr 24
KeywordsAgammaglobulinemia, alpha-Glucosidases, Antibodies, Viral, Child, Congenital Disorders of Glycosylation, Disease Resistance, Female, Glycosylation, Humans, Immunoglobulins, Male, Virus Diseases

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.

Alternate JournalN. Engl. J. Med.
PubMed ID24716661
PubMed Central IDPMC4066413
Grant ListHHSN261200800001E / / PHS HHS / United States
Z99 CL999999 / CL / CLC NIH HHS / United States