tetano
Editor, Senior Moderator
Original Article
Brief Report
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Mohammed A. Sadat, M.D., Ph.D., Susan Moir, Ph.D., Tae-Wook Chun, Ph.D., Paolo Lusso, M.D., Ph.D., Gerardo Kaplan, Ph.D., Lynne Wolfe, N.P., Matthew J. Memoli, M.D., Miao He, Ph.D., Hugo Vega, M.D., Ph.D., Leo J.Y. Kim, B.A., Yan Huang, Ph.D., Nadia Hussein, B.E., Elma Nievas, M.D., Raquel Mitchell, Ph.D., Mary Garofalo, R.N., Aaron Louie, B.Sc., Derek C. Ireland, Ph.D., Claire Grunes, Raffaello Cimbro, Ph.D., Vyomesh Patel, Ph.D., Genevieve Holzapfel, Ph.D., Daniel Salahuddin, B.Sc., Tyler Bristol, M.S., David Adams, M.D., Beatriz E. Marciano, M.D., Madhuri Hegde, M.D., Yuxing Li, Ph.D., Katherine R. Calvo, M.D., Ph.D., Jennifer Stoddard, B.S., J. Shawn Justement, M.S., Jerome Jacques, M.S., Debra A. Long Priel, M.S., Danielle Murray, M.A., Peter Sun, Ph.D., Douglas B. Kuhns, Ph.D., Cornelius F. Boerkoel, M.D., Ph.D., John A. Chiorini, Ph.D., Giovanni Di Pasquale, Ph.D., Daniela Verthelyi, M.D., Ph.D., and Sergio D. Rosenzweig, M.D., Ph.D.
April 9, 2014DOI: 10.1056/NEJMoa1302846
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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.
full article
http://www.nejm.org/doi/full/10.1056/NEJMoa1302846#t=article
Brief Report
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Mohammed A. Sadat, M.D., Ph.D., Susan Moir, Ph.D., Tae-Wook Chun, Ph.D., Paolo Lusso, M.D., Ph.D., Gerardo Kaplan, Ph.D., Lynne Wolfe, N.P., Matthew J. Memoli, M.D., Miao He, Ph.D., Hugo Vega, M.D., Ph.D., Leo J.Y. Kim, B.A., Yan Huang, Ph.D., Nadia Hussein, B.E., Elma Nievas, M.D., Raquel Mitchell, Ph.D., Mary Garofalo, R.N., Aaron Louie, B.Sc., Derek C. Ireland, Ph.D., Claire Grunes, Raffaello Cimbro, Ph.D., Vyomesh Patel, Ph.D., Genevieve Holzapfel, Ph.D., Daniel Salahuddin, B.Sc., Tyler Bristol, M.S., David Adams, M.D., Beatriz E. Marciano, M.D., Madhuri Hegde, M.D., Yuxing Li, Ph.D., Katherine R. Calvo, M.D., Ph.D., Jennifer Stoddard, B.S., J. Shawn Justement, M.S., Jerome Jacques, M.S., Debra A. Long Priel, M.S., Danielle Murray, M.A., Peter Sun, Ph.D., Douglas B. Kuhns, Ph.D., Cornelius F. Boerkoel, M.D., Ph.D., John A. Chiorini, Ph.D., Giovanni Di Pasquale, Ph.D., Daniela Verthelyi, M.D., Ph.D., and Sergio D. Rosenzweig, M.D., Ph.D.
April 9, 2014DOI: 10.1056/NEJMoa1302846
Share:
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.
full article
http://www.nejm.org/doi/full/10.1056/NEJMoa1302846#t=article