Featured Research

from universities, journals, and other organizations

Scientists discover genetic disease that causes recurrent respiratory infections

Date:
October 17, 2013
Source:
University of Cambridge
Summary:
Scientists have discovered a rare genetic disease that predisposes patients to severe respiratory infections and lung damage.

"We believe that now many more APDS patients will be identified all over the world," says Sergey Nejentsev.
Credit: Marco Desscouleurs / Fotolia

Cambridge scientists have discovered a rare genetic disease which predisposes patients to severe respiratory infections and lung damage. Because the scientists also identified how the genetic mutation affects the immune system, they are hopeful that new drugs that are currently undergoing clinical trials to treat leukemia may also be effective in helping individuals with this debilitating disease.

Related Articles


For the study, led by the University of Cambridge in collaboration with the Babraham Institute and the MRC Laboratory for Molecular Biology, the researchers first examined genetic information from individuals who suffer from immunodeficiency and are predisposed to infections. From this group, the scientists identified a unique genetic mutation in 17 patients that suffer from severe respiratory infections and rapidly develop lung damage.

The researchers, who were primarily funded by the Wellcome Trust, MRC, BBSRC and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, found that the mutation increases activity of an enzyme called Phosphoinositide 3-Kinase δ (PI3Kδ). The enzyme is present in immune cells and regulates their function. However, constantly activated PI3Kδ impairs work of these immune cells, preventing them from responding efficiently to infection and providing long-lasting protection. Consequently, patients with this mutation have severe and recurrent infections.

"Patients with this mutation have a defect in the immune cells, so their protection from infections is weak and inefficient," said Sergey Nejentsev, Wellcome Trust Senior Research Fellow from the University of Cambridge who led the research. "We called this newly identified disease Activated PI3K- δ Syndrome (APDS) after the enzyme in the immune system that is affected by the genetic mutation."

The researchers believe that it may be possible to treat APDS in future. There are currently drugs in clinical trials for leukemia that were designed specifically to inhibit the PI3Kδ enzyme. The researchers have already shown that these drugs reduce activity of the mutant protein.

Alison Condliffe, joint senior author on the paper from the University of Cambridge, said: "We are very excited by the prospect of using these drugs to help patients with APDS. We believe that they may be able to restore functions of immune cells, thereby reducing infections and preventing lung damage."

Although the prevalence of the disease is not yet known, the scientists believe that it is relatively frequent compared to other immunodeficiencies and may underpin immunodeficiencies and chronic lung disorders in a substantial fraction of patients.

"It is very important that doctors consider a possibility of APDS in their patients," said Dr Nejentsev. "A simple genetic test can tell if the patient has the mutation or not. We believe that now many more APDS patients will be identified all over the world."


Story Source:

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


Journal Reference:

  1. I. Angulo, O. Vadas, F. Garcon, E. Banham-Hall, V. Plagnol, T. R. Leahy, H. Baxendale, T. Coulter, J. Curtis, C. Wu, K. Blake-Palmer, O. Perisic, D. Smyth, M. Maes, C. Fiddler, J. Juss, D. Cilliers, G. Markelj, A. Chandra, G. Farmer, A. Kielkowska, J. Clark, S. Kracker, M. Debre, C. Picard, I. Pellier, N. Jabado, J. A. Morris, G. Barcenas-Morales, A. Fischer, L. Stephens, P. Hawkins, J. C. Barrett, M. Abinun, M. Clatworthy, A. Durandy, R. Doffinger, E. Chilvers, A. J. Cant, D. Kumararatne, K. Okkenhaug, R. L. Williams, A. Condliffe, S. Nejentsev. Phosphoinositide 3-Kinase Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science, 2013; DOI: 10.1126/science.1243292

Cite This Page:

University of Cambridge. "Scientists discover genetic disease that causes recurrent respiratory infections." ScienceDaily. ScienceDaily, 17 October 2013. <www.sciencedaily.com/releases/2013/10/131017144544.htm>.
University of Cambridge. (2013, October 17). Scientists discover genetic disease that causes recurrent respiratory infections. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2013/10/131017144544.htm
University of Cambridge. "Scientists discover genetic disease that causes recurrent respiratory infections." ScienceDaily. www.sciencedaily.com/releases/2013/10/131017144544.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) 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