Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Scientists identify cause of Job's syndrome

The rare immunodeficiency disorder known as Job’s syndrome is caused by a specific genetic mutation that both overstimulates and understimulates the human immune system, leading to harmful bacterial and fungal infections and the physical features characteristic of the syndrome, according to two independent groups of scientists, one from the National Institutes of Health (NIH) and the other from the Tokyo Medical and Dental University.

The NIH team’s report will be available the evening of September 19 online in The New England Journal of Medicine. The Tokyo group published its findings in Nature last month.

“Understanding the genetic cause of this rare immunological disorder is a signal accomplishment, revealing information that has been sought for decades,” says Anthony S. Fauci, M.D., director of the National Institute of Allergy and Infectious Diseases (NIAID), a component of NIH. "The immunological insights from this study not only promise to open new therapeutic doors for Job’s syndrome, but also provide new leads for treating other immunodeficiency diseases.”

Only about 250 cases of Job’s syndrome (pronounced like “robe,” and technically known as hyperimmunoglobulin E syndrome, or HIES) have been reported since it was first discovered in 1966. While individuals with Job’s syndrome often live long lives, life-threatening complications from basic infections are a constant concern. Identifying the specific gene implicated in the disease could benefit scientific study of several diseases that afflict people with Job’s syndrome, including infections caused by Aspergillus, Candida and Staphylococcus.

Job’s syndrome makes the immune system extremely sensitive to invading microbes. People with the syndrome often have multiple, recurring ailments, such as skin infections that cause lesions and boils, and lung infections that cause pneumonia. They also are at high risk of breaking bones, having a curved spine, and experiencing facial and dental developmental difficulties. There is no cure for Job’s syndrome, although antibiotics and antifungals are used to prevent and treat the infections associated with the disorder.

Steven M. Holland, M.D., chief of the NIAID Laboratory of Clinical Infectious Diseases, led the research team that over several years assembled the patient group that helped unravel the 41-year-old mystery. A key finding involved work with proteins that alert the body to increase production of white blood cells, increase immune-enhancing chemicals, and increase their killing of invaders. These signal transducer and activator of transcription (STAT) proteins help alert and direct immune system responses to stop invading pathogens. In 48 Job’s syndrome patients, Dr. Holland’s team sequenced the gene that makes STAT3 protein and discovered that mutations in the gene causes Job’s syndrome.

The team became interested in the role of the STAT3 gene after observing increased levels of some immune system responses in Job’s patients, but inadequate levels of response to others, indicating a defect in immune system signaling. Researchers found mutations in the STAT3 gene in 48 patients with Job’s, but not in 48 unaffected relatives or 158 unaffected people in a control group.

“We found that Job’s is associated with excessive immune reaction, not deficient immune reaction as many people suspected,” says Dr. Holland. “STAT3 is the key, and it can become a really powerful tool to dissect other aspects of immunity at a molecular and functional level.” For example, in studies done in mice, other investigators have demonstrated specific roles for STAT3 in bone and organ development, preservation and inflammation.

Ken Pekoc | EurekAlert!
Further information:

More articles from Health and Medicine:

nachricht Resolving the mystery of preeclampsia
21.10.2016 | Universitätsklinikum Magdeburg

nachricht New potential cancer treatment using microwaves to target deep tumors
12.10.2016 | University of Texas at Arlington

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>