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.

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 September 16, 2014 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 September 16, 2014).

Share This



More Health & Medicine News

Tuesday, September 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

EU Ministers and Experts Meet to Discuss Ebola Reponse

EU Ministers and Experts Meet to Discuss Ebola Reponse

AFP (Sep. 15, 2014) The European Commission met on Monday to coordinate aid that the EU can offer to African countries affected by the Ebola outbreak. Duration: 00:58 Video provided by AFP
Powered by NewsLook.com
Despite The Risks, Antibiotics Still Overprescribed For Kids

Despite The Risks, Antibiotics Still Overprescribed For Kids

Newsy (Sep. 15, 2014) A new study finds children are prescribed antibiotics twice as often as is necessary. Video provided by Newsy
Powered by NewsLook.com
FDA Eyes Skin Shocks Used at Mass. School

FDA Eyes Skin Shocks Used at Mass. School

AP (Sep. 15, 2014) The FDA is considering whether to ban devices used by the Judge Rotenberg Educational Center in Canton, Massachusetts, the only place in the country known to use electrical skin shocks as aversive conditioning for aggressive patients. (Sept. 15) Video provided by AP
Powered by NewsLook.com
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

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