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 July 30, 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 July 30, 2014).

Share This




More Health & Medicine News

Wednesday, July 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Generics Eat Into Pfizer's Sales

Generics Eat Into Pfizer's Sales

Reuters - Business Video Online (July 29, 2014) — Pfizer, the world's largest drug maker, cut full-year revenue forecasts because generics could cut into sales of its anti-arthritis drug, Celebrex. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Nigeria Ups Ebola Stakes on 1st Death

Nigeria Ups Ebola Stakes on 1st Death

Reuters - Business Video Online (July 29, 2014) — Nigerian authorities have shut and quarantined a Lagos hospital where a Liberian man died of the Ebola virus, the first recorded case of the highly-infectious disease in Africa's most populous economy. David Pollard reports Video provided by Reuters
Powered by NewsLook.com
Running 5 Minutes A Day Might Add Years To Your Life

Running 5 Minutes A Day Might Add Years To Your Life

Newsy (July 29, 2014) — According to a new study, just five minutes of running or jogging a day could add years to your life. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Poses Little Threat To U.S.: CDC

Ebola Outbreak Poses Little Threat To U.S.: CDC

Newsy (July 29, 2014) — The Ebola outbreak in West Africa poses little threat to Americans, according to officials with the Centers for Disease Control and Prevention. Video provided by Newsy
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