Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
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- 作者：Karin E. Lundina ; karin.lundin@ki.se" class="auth_mail" title="E-mail the corresponding author ; Abdulrahman Hamasya ; Paul Hoff Backeb ; c ; Lotte N. Moensd ; Elin Falk-Sö ; rqvistd ; Katja B. Elgstø ; enc ; Lars Mø ; rkridc ; Magnar Bjø ; rå ; sb ; e ; Carl Granertf ; Anna-Carin Norlinf ; g ; Mats Nilssond ; h ; Birger Christenssoni ; Stephan Stenmarkj ; C.I. Edvard Smitha ; f ; edvard.smith@ki.se" class="auth_mail" title="E-mail the corresponding author
- 关键词：CDG ; Congenital defects in glycosylation ; EBV ; Epstein Barr Virus. ; GlcNAc-1-P ; N-acetyl-glucosamine-1-phosphate. ; GlcNAc-6-P ; N-acetyl-glucosamine-6-phosphate ; HIES ; hyper-IgE syndrome ; PGM3 ; Phosphoglucomutase 3 ; UDP-GalNac ; uridine diphosphate N-acetylglucosamine
- 刊名：Clinical Immunology
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：161
- 期：2
- 页码：366-372
- 全文大小：565 K
文摘
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Immunodeficiency reported in 1976, is now identified as caused by a mutation in PGM3.
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Replacing Ile322 with Thr reduces protein stability and enzyme activity in PGM3.
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Identified mutation in PGM3 induces primary immunodeficiency without hyper-IgE.
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A PGM3-PID with increased eosinophils but without skeletal or neurological changes