Commentary 10.1172/JCI134240

XMEN: welcome to the glycosphere

Hudson H. Freeze

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

Address correspondence to: Hudson H. Freeze, Sanford Burnham Prebys Medical Discovery Institute, 10901 N. Torrey Pines Road, La Jolla, California 92037, USA. Phone: 858.646.3142; Email: hudson@SBPDiscovery.org.

Find articles by Freeze, H. in: JCI | PubMed | Google Scholar

Published December 9, 2019 - More info

Published in Volume 130, Issue 1 on January 2, 2020
J Clin Invest. 2020;130(1):80–82. https://doi.org/10.1172/JCI134240.
© 2020 American Society for Clinical Investigation
Published December 9, 2019 - Version history
View PDF

XMEN (X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia) is a complex primary immunological deficiency caused by mutations in MAGT1, a putative magnesium transporter. In this issue of the JCI, Ravell et al. greatly expand the clinical picture. The authors investigated patients’ mutations and symptoms and reported distinguishing immunophenotypes. They also showed that MAGT1 is required for N-glycosylation of key T cell and NK cell receptors that can account for some of the clinical features. Notably, transfection of the affected lymphocytes with MAGT1 mRNA restored both N-glycosylation and receptor function. Now we can add XMEN to the ever-growing family of congenital disorders of glycosylation (CDG).

Preview pages

Reset
Page preview
81 Page 80 Back

Continue reading with a subscription.

A subscription is required for you to read this article in full. If you are a subscriber, you may sign in to continue reading.

Already subscribed?

Click here to sign into your account.

Don't have a subscription?

Please select one of the subscription options, which includes a low-cost option just for this article.

At an institution or library?

If you are at an institution or library and believe you should have access, please check with your librarian or administrator (more information).

Problems?

Please try these troubleshooting tips.

  • Purchase this article
  • $10
  • Purchasing this article will give you full access for the calendar year.
  • Purchase article
  • Purchase Site Pass
  • $25
  • This will give you access to every article on the site for 24 hours.
  • Order site pass
  • Online subscription
  • $95
  • Individual online subscriptions give you full online access for the calendar year.
  • Individual online subscriptions ordered from September 1st on will receive access for the remainder of current year as well as for the full following year subscription term.
  • Order Online
  • JCI This Month subscription
  • $135
  • JCI This Month is a 16- to 20-page overview of the articles published each month
  • Subscribing to JCI This Month also gives subscribers full online access for the calendar year.
  • *Price outside U.S. and Canada: $195.
  • JCI This Month + Online
Advertisement