Featured Research

from universities, journals, and other organizations

Immunology: New Gene Mutation Linked To Antibody Deficiency

Date:
March 23, 2010
Source:
Journal of Clinical Investigation
Summary:
Individuals who have abnormally low levels of immune molecules known as antibodies have an increased susceptibility to infection with certain types of bacteria. By analyzing one such person, researchers have identified a new genetic cause of antibody deficiency, mutations in the CD81 gene.

Individuals who have abnormally low levels of immune molecules known as antibodies have an increased susceptibility to infection with certain types of bacteria. By analyzing one such person, Jacques J.M. van Dongen and colleagues, at Erasmus MC, University Medical Center Rotterdam, Netherlands, have identified a new genetic cause of antibody deficiency, mutations in the CD81 gene.

Mutations in the CD19 gene, which generates a protein that functions in a complex with CD21, CD81, and CD225, are known to be a cause of antibody deficiency. The patient studied by van Dongen and colleagues had impaired antibody responses and an absence of CD19 expression on B cells (the immune cells that produce antibodies). Surprisingly, no mutations were detected in the patient's CD19 genes.

However, mutations were detected in both copies of the CD81 gene, and this was associated with a complete lack of CD81 expression on immune cells in the blood.

Further analysis using B cells from the patient revealed that CD81 is required for CD19 membrane expression, providing mechanistic insight into the antibody deficiency caused by CD81 mutation.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Menno C. van Zelm, Julie Smet, Brigitte Adams, Françoise Mascart, Liliane Schandené, Françoise Janssen, Alina Ferster, Chiung-Chi Kuo, Shoshana Levy, Jacques J.M. van Dongen and Mirjam van der Burg. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI39748

Cite This Page:

Journal of Clinical Investigation. "Immunology: New Gene Mutation Linked To Antibody Deficiency." ScienceDaily. ScienceDaily, 23 March 2010. <www.sciencedaily.com/releases/2010/03/100308220432.htm>.
Journal of Clinical Investigation. (2010, March 23). Immunology: New Gene Mutation Linked To Antibody Deficiency. ScienceDaily. Retrieved September 15, 2014 from www.sciencedaily.com/releases/2010/03/100308220432.htm
Journal of Clinical Investigation. "Immunology: New Gene Mutation Linked To Antibody Deficiency." ScienceDaily. www.sciencedaily.com/releases/2010/03/100308220432.htm (accessed September 15, 2014).

Share This



More Health & Medicine News

Monday, September 15, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Respiratory Virus Spreads To Northeast, Now In 21 States

Respiratory Virus Spreads To Northeast, Now In 21 States

Newsy (Sep. 14, 2014) — The respiratory virus Enterovirus D68, which targets children, has spread from the Midwest to 21 states. Video provided by Newsy
Powered by NewsLook.com
Shocker: Journalists Are Utterly Addicted To Coffee

Shocker: Journalists Are Utterly Addicted To Coffee

Newsy (Sep. 13, 2014) — A U.K. survey found that journalists consumed the most amount of coffee, but that's only the tip of the coffee-related statistics iceberg. Video provided by Newsy
Powered by NewsLook.com
Contagious Respiratory Illness Continues to Spread Across U.S.

Contagious Respiratory Illness Continues to Spread Across U.S.

Reuters - US Online Video (Sep. 12, 2014) — Hundreds of children in several states have been stricken by a serious respiratory illness that is spreading across the U.S. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Ebola Batters Sierra Leone Economy Too

Ebola Batters Sierra Leone Economy Too

Reuters - Business Video Online (Sep. 12, 2014) — The World Health Organisation warns that local health workers in West Africa can't keep up with Ebola - and among those countries hardest hit by the outbreak, the economic damage is coming into focus, too. As David Pollard reports, Sierra Leone admits that growth in one of the poorest economies in the region is taking a beating. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

    Technology News



    Save/Print:
    Share:  

    Free Subscriptions


    Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

    Get Social & Mobile


    Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

    Have Feedback?


    Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
    Mobile iPhone Android Web
    Follow Facebook Twitter Google+
    Subscribe RSS Feeds Email Newsletters
    Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins