Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene for immune deficiency syndromes found

12.07.2005


Finding may yield a new test to explain recurring infections



A newly discovered gene mutation may account for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID), report researchers in the July issue of Nature Genetics. The discovery may lead to a new diagnostic test for these conditions, which make people highly susceptible to infections and often go unrecognized because of a lack of good tests.

IgA deficiency affects 1 in 600 people; CVID is less common but more severe. Children and adults with either condition suffer relentlessly recurring ear infections, sinus infections, bronchitis, pneumonias and gastrointestinal infections. IgA deficiency and CVID can occur in the same family, and also predispose people to autoimmunity, particularly affecting the thyroid gland and resulting in thyroid hormone insufficiency. Finally, people with CVID are susceptible to B-cell lymphomas.


The researchers, led by Raif Geha, MD, and Emanuela Castigli, PhD, in the Division of Immunology at Children’s Hospital Boston, found mutations in a gene known as TACI in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people tested had a TACI mutation. Four of the 5 patients with TACI mutations were studied further, and all 4 had relatives with the same mutations. Eleven of the 12 identified relatives with TACI or IgA deficiency reported a history of recurrent infections and were found to have low levels of immunoglobulin A (IgA), immunoglobulin G (IgG) or both.

TACI mutations interfere with two aspects of the immune response that involve maturation of B cells, the white blood cells that make immunoglobulins, which function as antibodies, to fight infections. Normally, TACI triggers B cells to switch from making immunoglobulin M (IgM), an antibody produced early in the body’s immune response, to making other immunoglobulins like IgA and IgG. More important, TACI signals B cells to produce antibodies with a high affinity for specific attackers. Because TACI mutations are dominant, people with even one copy of the mutation will be unable to mount a strong antibody response.

"A test for TACI would allow for diagnosis of more children and their relatives," says Geha, senior author of the study and a professor of pediatrics at Harvard Medical School. "Many children who are sick are now missed, because they can have normal IgA and IgG levels, yet they still have poor antibody responses and get the same bacteria and viruses again and again."

The gene discovery will immediately not change therapy, Geha adds. "For the time being, it’s prophylactic antibiotics or IV immunoglobulin infusions every three weeks," he says.

Geha’s team previously demonstrated that TACI binds to two other proteins made by cells in the respiratory and gastrointestinal lining, known as APRIL and BAFF, to trigger the signal for B cells to mature. Geha believes that additional cases of immune deficiency result from mutations in the APRIL and BAFF genes, and plans to verify this in further studies.

Aaron Patnode | EurekAlert!
Further information:
http://www.childrens.harvard.edu
http://www.childrenshospital.org/research

More articles from Life Sciences:

nachricht Designer cells: artificial enzyme can activate a gene switch
22.05.2018 | Universität Basel

nachricht Flow of cerebrospinal fluid regulates neural stem cell division
22.05.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Designer cells: artificial enzyme can activate a gene switch

22.05.2018 | Life Sciences

PR of MCC: Carbon removal from atmosphere unavoidable for 1.5 degree target

22.05.2018 | Earth Sciences

Achema 2018: New camera system monitors distillation and helps save energy

22.05.2018 | Trade Fair News

VideoLinks
Science & Research
Overview of more VideoLinks >>>