Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

被引：104

作者：

Sadat, Mohammed A. ^{[1
]}

Moir, Susan ^{[2
]}

Chun, Tae-Wook ^{[2
]}

Lusso, Paolo ^{[2
]}

Kaplan, Gerardo ^{[11
]}

Wolfe, Lynne ^{[7
]}

Memoli, Matthew J. ^{[3
]}

He, Miao ^{[15
]}

Vega, Hugo ^{[7
]}

Kim, Leo J. Y. ^{[2
]}

Huang, Yan ^{[7
]}

Hussein, Nadia ^{[1
]}

Nievas, Elma ^{[1
]}

Mitchell, Raquel ^{[1
]}

Garofalo, Mary ^{[1
]}

Louie, Aaron ^{[2
]}

Ireland, Derek C. ^{[12
]}

Grunes, Claire ^{[12
]}

Cimbro, Raffaello ^{[2
]}

Patel, Vyomesh ^{[9
]}

Holzapfel, Genevieve ^{[5
]}

Salahuddin, Daniel ^{[5
]}

Bristol, Tyler ^{[3
]}

Adams, David ^{[7
]}

Marciano, Beatriz E. ^{[4
]}

Hegde, Madhuri ^{[15
]}

Li, Yuxing ^{[16
,17
]}

Calvo, Katherine R. ^{[8
]}

Stoddard, Jennifer ^{[8
]}

Justement, J. Shawn ^{[2
]}

Jacques, Jerome ^{[11
]}

Priel, Debra A. Long ^{[13
,14
]}

Murray, Danielle ^{[2
]}

Sun, Peter ^{[5
]}

Kuhns, Douglas B. ^{[13
,14
]}

Boerkoel, Cornelius F. ^{[7
]}

Chiorini, John A. ^{[10
]}

Di Pasquale, Giovanni ^{[10
]}

Verthelyi, Daniela ^{[12
]}

Rosenzweig, Sergio D. ^{[1
,6
]}

机构：

[1] NIAID, Infect Dis Susceptibil Unit, Lab Host Def, NIH, Bethesda, MD 20892 USA

[2] NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA

[3] NIAID, Infect Dis Lab, NIH, Bethesda, MD 20892 USA

[4] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

[5] NIAID, Lab Immunogenet, NIH, Bethesda, MD 20892 USA

[6] NIAID, Primary Immunodeficiency Clin, NIH, Bethesda, MD 20892 USA

[7] Natl Human Res Genome Inst, Undiagnosed Dis Program, NIH, Bethesda, MD USA

[8] Natl Inst Dent & Craniofacial Res, Dept Lab Med, Clin Ctr, NIH, Bethesda, MD USA

[9] Natl Inst Dent & Craniofacial Res, Oral & Pharyngeal Canc Branch, NIH, Bethesda, MD USA

[10] Natl Inst Dent & Craniofacial Res, Adeno Associated Virus Biol Sect, NIH, Bethesda, MD USA

[11] Ctr Biol Evaluat & Res, Silver Spring, MD USA

[12] Ctr Drug Evaluat & Res, Silver Spring, MD USA

[13] US FDA, Clin Serv Program, Silver Spring, MD USA

[14] Frederick Natl Lab Canc Res, SAIC Frederick, Frederick, MD USA

[15] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[16] Ctr Neutralizing Antibodies TSRI, IAVI Int AIDS Vaccine Initiat, La Jolla, CA USA

[17] Scripps Res Inst, Dept Immunol & Microbial Sci, La Jolla, CA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2014年 / 370卷 / 17期

基金：

美国国家卫生研究院;

关键词：

OTITIS-MEDIA; HIV; EFFICACY; ENTRY; CD4;

D O I：

10.1056/NEJMoa1302846

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

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.

引用

页码：1615 / 1625

页数：11

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