Featured Research

from universities, journals, and other organizations

Discovery of previously unknown immunodeficiency

Date:
February 19, 2013
Source:
Medical University of Vienna
Summary:
Severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID) – this has now been demonstrated in a 13-year-old patient. A previously unknown B-cell defect was identified in the teenager with the aid of so-called "next generation sequencing", with which genetic mutations in the genetic material can be detected within a few days.

Discovery of previously unknown immunodeficiency.
Credit: Image courtesy of Medical University of Vienna

Severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID) -- this has now been demonstrated in a 13-year-old patient by a research group from the MedUni Vienna belonging to the CeMM Research Center for Molecular Medicine of the AAS and the St. Anna paediatric hospital. A previously unknown B-cell defect was identified in the teenager with the aid of so-called "next generation sequencing," with which genetic mutations in the genetic material can be detected within a few days. The study has been published in the leading journal Blood.

"Our discovery created a sense of relief in the family as they now know at last what is wrong with the boy," says Kaan Boztug, who works routinely as a doctor at the University Department of Paediatrics and Adolescent Medicine treating seriously ill children, and as a researcher at CeMM, searching for the molecular causes of diseases of the immune system using the most modern genetic technologies. In this specific case a defect in the PRKCD gene was discovered. This causes a malfunction in the regulation of the B lymphocytes which are regarded as "antibody factories." Severe autoimmunity develops as a consequence.

According to Boztug and Elisabeth F๖rster-Waldl, paediatrician and immunologist at the University Department of Paediatrics and Adolescent Medicine of the MedUni Vienna, not only diagnostic, but also therapeutic, consequences can be derived from the recently successful molecular identification of the deficiency. From early childhood the patient had suffered periodically from severe autoimmunity of the kidneys, lymph nodes and connective tissues. The now 13-year-old had previously been globally immunosuppressed with cortisone for long periods but now the target of the therapy can be precisely isolated. Says F๖rster-Waldl: "Only when you know the mechanism, an individually-tailored therapy can be appropriately used or developed."

Data from the Anglo-American world assume that the prevalence of a clinically relevant immunodeficiency that can sometimes involve life-threatening consequences for those affected lies at between 1:1200 and 1:2000. Such figures can only be estimated for Austria as the systematic collection of data has only been taking place for the last two years.

At present around 30 to 40 percent of these deficiencies remain without a precise diagnosis according to F๖rster-Waldl. This could now change with the aid of the latest diagnostic processes including "next generation sequencing." Most immunodeficiencies are classified as so-called "rare diseases." Kaan Boztug: "However, the sum total of all these defects cannot be categorised as rare."


Story Source:

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


Journal Reference:

  1. E. Salzer, E. Santos-Valente, S. Klaver, S. A. Ban, W. Emminger, N. K. Prengemann, W. Garncarz, L. Mullauer, R. Kain, H. Boztug, A. Heitger, K. Arbeiter, F. Eitelberger, M. G. Seidel, W. Holter, A. Pollak, W. F. Pickl, E. Forster-Waldl, K. Boztug. B cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood, 2013; DOI: 10.1182/blood-2012-10-460741

Cite This Page:

Medical University of Vienna. "Discovery of previously unknown immunodeficiency." ScienceDaily. ScienceDaily, 19 February 2013. <www.sciencedaily.com/releases/2013/02/130219090647.htm>.
Medical University of Vienna. (2013, February 19). Discovery of previously unknown immunodeficiency. ScienceDaily. Retrieved August 1, 2014 from www.sciencedaily.com/releases/2013/02/130219090647.htm
Medical University of Vienna. "Discovery of previously unknown immunodeficiency." ScienceDaily. www.sciencedaily.com/releases/2013/02/130219090647.htm (accessed August 1, 2014).

Share This




More Health & Medicine News

Friday, August 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Republicans Vote to Sue Obama Over Healthcare Law

House Republicans Vote to Sue Obama Over Healthcare Law

Reuters - US Online Video (July 31, 2014) — The Republican-led House of Representatives votes to sue President Obama, accusing him of overstepping his executive authority in making changes to the Affordable Care Act. Mana Rabiee reports. Video provided by Reuters
Powered by NewsLook.com
Despite Health Questions, E-Cigs Are Beneficial: Study

Despite Health Questions, E-Cigs Are Beneficial: Study

Newsy (July 31, 2014) — Citing 81 previous studies, new research out of London suggests the benefits of smoking e-cigarettes instead of regular ones outweighs the risks. Video provided by Newsy
Powered by NewsLook.com
Dangerous Bacteria Kills One in Florida

Dangerous Bacteria Kills One in Florida

AP (July 31, 2014) — Sarasota County, Florida health officials have issued a warning against eating raw oysters and exposing open wounds to coastal and inland waters after a dangerous bacteria killed one person and made another sick. (July 31) Video provided by AP
Powered by NewsLook.com
Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) — Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. 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