Featured Research

from universities, journals, and other organizations

New Genetic Cause Of Boy In The Bubble Syndrome

Date:
December 18, 2008
Source:
Journal of Clinical Investigation
Summary:
Severe combined immunodeficiency (SCID) is an inherited disease sometimes known as "boy in the bubble syndrome," because the patient lacks one or more type of immune cell, making them very susceptible to infections. Researchers have now identified a new genetic cause of SCID characterized by a lack of T cells and B cells. Specifically, they have identified a patient who has a mutation in the gene DNA-PKcs.

Severe combined immunodeficiency (SCID) is an inherited disease sometimes known as 'Boy in the bubble syndrome', because the patient lacks one or more type of immune cell, making them very susceptible to infections.

Related Articles


Dik van Gent and colleagues, at Erasmus Medical Center, The Netherlands, have now identified a new genetic cause of SCID characterized by a lack of T cells and B cells (T–B– SCID). Specifically, they identified a patient with T–B– SCID who has a mutation in the gene DNA-PKcs.

Their study appears online Dec. 15 in the Journal of Clinical Investigation.

Further analysis revealed the reason that the mutant DNA-PKcs protein generated as a result of the DNA-PKcs genetic mutation caused SCID: it was unable to activate another protein (known as Artemis) that is essential for the development of T cells and B cells.

Importantly, the mutant DNA-PKcs protein retained the ability to perform one of the main functions of normal DNA-PKcs protein (a process known as kinase activity). The authors therefore conclude that clinicians with patients who have T–B– SCID should consider the possibility that mutations in the gene DNA-PKcs might be the cause of disease, even in those individuals who have normal DNA-PKcs kinase activity.


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. van der Burg et al. A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining. Journal of Clinical Investigation, December 16, 2008; DOI: 10.1172/JCI37141

Cite This Page:

Journal of Clinical Investigation. "New Genetic Cause Of Boy In The Bubble Syndrome." ScienceDaily. ScienceDaily, 18 December 2008. <www.sciencedaily.com/releases/2008/12/081215183951.htm>.
Journal of Clinical Investigation. (2008, December 18). New Genetic Cause Of Boy In The Bubble Syndrome. ScienceDaily. Retrieved April 25, 2015 from www.sciencedaily.com/releases/2008/12/081215183951.htm
Journal of Clinical Investigation. "New Genetic Cause Of Boy In The Bubble Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/12/081215183951.htm (accessed April 25, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 25, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

85 Killed in Niger by Meningitis Since Start of Year

85 Killed in Niger by Meningitis Since Start of Year

AFP (Apr. 24, 2015) A meningitis outbreak in Niger has killed 85 people since the start of the year prompting authorities to close schools in the capital Niamey until Monday. Video provided by AFP
Powered by NewsLook.com
C-Section Births a Trend in Brazil

C-Section Births a Trend in Brazil

AFP (Apr. 24, 2015) More than half of Brazil&apos;s babies are born via cesarean section, as mothers and doctors opt for a faster and less painful experience despite the health risks. Duration: 02:02 Video provided by AFP
Powered by NewsLook.com
Anti-Malaria Jab Hope

Anti-Malaria Jab Hope

Reuters - News Video Online (Apr. 24, 2015) The world&apos;s first anti-malaria vaccine could get the go-ahead for use in Africa from October if approved by international regulators. Paul Chapman reports. Video provided by Reuters
Powered by NewsLook.com
3D Food Printing: The Meal of the Future?

3D Food Printing: The Meal of the Future?

AP (Apr. 23, 2015) Developers of 3D food printing hope the culinary technology will revolutionize the way we cook and eat. (April 23) Video provided by AP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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