PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

International team discovers new genetic immunodeficiency

Mutations in the gene DOCK2 leave patients vulnerable to severe early infections

2015-06-18
(Press-News.org) BOSTON, June 18 -- An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children's Hospital. The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

As the researchers -- led by Kerry Dobbs and Luigi Notarangelo, M.D., of Boston Children's Division of Allergy and Immunology -- reported today in the New England Journal of Medicine, DOCK2 deficiency may be detectable by newborn screening and is curable with a hematopoietic stem cell transplant (HSCT).

Genetic immunodeficiencies, such as X-linked severed combined immunodeficiency (X-SCID) or Wiskott-Aldrich syndrome (WAS), are a group of devastating conditions where mutations to specific genes cause either functional defects in or interfere with production of T-cells and other components of a patient's immune system. These defects increase a patient's susceptibility to a range of severe infections at an early age.

Conditions for which the causative genes are known, such as X-SCID, can be screened for at birth, allowing for early detection and, when appropriate, curative treatment with a hematopoietic stem cell transplant.

'Until recently, a correct diagnosis for babies born with SCID or other combined immunodeficiencies, such as DOCK2 deficiency, could be made only after these babies had developed serious infections, which could lead to death or compromise the efficacy of an HSCT,' said Notarangelo, who is a professor of pediatrics at Harvard Medical School. 'Newborn screening for these diseases is now available for most babies with SCID born in the USA, and this gives increased chances of definitive cure by performing the transplant while the baby is still well.'

In the current study, Notarangelo, Dobbs and their colleagues at the Rockefeller University and the Center for Molecular Medicine in Austria, conducted genetic, genomic and immunological analyses on five patients from Lebanon, Finland, Turkey and Honduras/Nicaragua who early in life demonstrated symptoms indicating a severe but distinctive immunodeficiency, one that left patients susceptible to a broad range of infections but particularly vulnerable to viruses. Three out of the five patients were born of closely related parents, and three were successfully treated by HSCT.

The team discovered through whole exome sequencing that all five patients harbored mutations in DOCK2, mutations that rendered the DOCK2 protein inactive. The mutations had profound effects on multiple aspects of the patients' immune systems, causing a profound decrease in T-cells and defects in T-, B- and natural killer (NK) cell function.

The study data show that defects in DOCK2, which helps immune cells react to external chemical signals, can have a profound effect on several aspects of immunity, including unforeseen affects on how non-immune cells (such as cells of the skin) respond to viruses.

Notarangelo noted that the data expand the field's understanding of the basic molecular mechanisms underlying human immunity, while adding a new diagnostic target for newborn screening.

'Although congenital immunodeficiencies are rare diseases, the study of these disorders has been essential in identifying key mechanisms governing the immune system's development and function, and how it helps fight against infections,' he said. 'The knowledge gained has also allowed development of new drugs that harness the immune system to treat more common conditions, including tumors and autoimmune diseases.'

INFORMATION:

The study was supported by the National Institute of Allergy and Infectious Diseases (grant number R01AI100887), the National Center for Research Resources and National Center for Advancing Clinical and Translational Sciences (grant number UL1TR000043), the Manton Foundation, the European Research Council (starting grant number 310857), the Austrian Science Fund START program (grant number Y595-B13), the German Research Foundation (Cluster of Excellence RE-BIRTH grant numbers EXC 62/1 and CRC738), the New England Newborn Screening Program at the University of Massachusetts Medical School, the Scientific and Research Council of Turkey (grant number 1059B191300622), the Union Chimique Belge Celltech and Baxter Healthcare.

About Boston Children's Hospital

Boston Children's Hospital is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including seven members of the National Academy of Sciences, 14 members of the Institute of Medicine and 14 members of the Howard Hughes Medical Institute comprise Boston Children's research community. Founded as a 20-bed hospital for children, Boston Children's today is a 395-bed comprehensive center for pediatric and adolescent health care. Boston Children's is also the primary pediatric teaching affiliate of Harvard Medical School.

For more information about research and clinical innovation at Boston Children's Hospital, visit: http://vector.childrenshospital.org.

To learn more about pediatric health, visit our Thriving blog: http://thriving.childrenshospital.org.

Join the social discussion and tweet us @BostonChildrens.

Follow Boston Children's Hospital on Facebook.

Follow Boston Children's Hospital on YouTube.



ELSE PRESS RELEASES FROM THIS DATE:

Musicians don't just hear in tune, they also see in tune

Musicians dont just hear in tune, they also see in tune
2015-06-18
Musicians don't just hear in tune, they also see in tune. That is the conclusion of the latest scientific experiment designed to puzzle out how the brain creates an apparently seamless view of the external world based on the information it receives from the eyes. "Our brain is remarkably efficient at putting us in touch with objects and events in our visual environment, indeed so good that the process seems automatic and effortless. In fact, the brain is continually operating like a clever detective, using clues to figure out what in the world we are looking at. And ...

NIAID-funded HIV vaccine research generates key antibodies in animal models

2015-06-18
A trio of studies being published today in the journals Science and Cell describes advances toward the development of an HIV vaccine. The three study teams all demonstrated techniques for stimulating animal cells to produce antibodies that either could stop HIV from infecting human cells in the laboratory or had the potential to evolve into such antibodies. Each of the research teams received funding from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. In one study, published in Science, researchers demonstrate ...

Scientists find evidence of key ingredient during dawn of life

Scientists find evidence of key ingredient during dawn of life
2015-06-18
CHAPEL HILL, NC - Before there were cells on Earth, simple, tiny catalysts most likely evolved the ability to speed up and synchronize the chemical reactions necessary for life to rise from the primordial soup. But what those catalysts were, how they appeared at the same time, and how they evolved into the two modern superfamilies of enzymes that translate our genetic code have not been understood. In the Journal of Biological Chemistry, scientists from the UNC School of Medicine provide the first direct experimental evidence for how primordial proteins developed the ...

Parkinson's disease appears associated with many cancers in Taiwan

2015-06-18
Parkinson disease (PD) appeared associated with 16 types of cancer in a study in Taiwan, an effort to explain the association in an East Asian population because most prior research has been conducted in Western populations, according to an article published online by JAMA Oncology. During the past 50 years, more than 25 epidemiological studies have been conducted on the association between PD and cancer, and most of those studies showed that individuals with PD had a decreased risk of cancer compared to those without PD. However, most of those studies were done in Western ...

MRSA contamination found in supermarket sausages and minced pork

2015-06-18
A survey carried out earlier this year has found the first evidence of the 'superbug' bacteria Methicillin-Resistant Staphylococcus aureus (MRSA) in sausages and minced pork obtained from supermarkets in the UK. However, researchers stress that this does not pose a significant immediate risk to the public. In February, a team of researchers funded primarily by the Medical Research Council (MRC) bought and analysed a total of 103 (52 pork and 51 chicken) pre-packaged fresh meat products, labelled as being of UK farm origin, from supermarkets in five different locations ...

UPitt researchers find link between neighborhood quality and cellular aging

2015-06-18
PITTSBURGH, June 17 -- Regardless of chronological age, people who live in neighborhoods with high crime, noise and vandalism are biologically more than a decade older than those who do not, according to a study led by researchers from the University of Pittsburgh. The findings were published online today in PLOS One. Strong research evidence supports that living in disadvantaged neighborhoods has an unfavorable impact on mental and physical health, explained lead author Mijung Park, Ph.D., M.P.H., R.N., assistant professor, University of Pittsburgh School of Nursing. ...

Jet contrails affect surface temperatures

Jet contrails affect surface temperatures
2015-06-18
High in the sky where the cirrus ice crystal clouds form, jet contrails draw their crisscross patterns. Now researchers have found that these elevated ice cloud trails can influence temperatures on the ground and affect local climate, according to a team of Penn State geographers. "Research done regarding September 2001, during the three days following 9-11 when no commercial jets were in the sky, suggested that contrails had an effect," said Andrew M. Carleton, professor of geography. "But that was only three days. We needed to look longer, while jets were in the air, ...

Titan's atmosphere even more Earth-like than previously thought

2015-06-18
Scientists at UCL have observed how a widespread polar wind is driving gas from the atmosphere of Saturn's moon Titan. The team analysed data gathered over seven years by the international Cassini probe, and found that the interactions between Titan's atmosphere, and the solar magnetic field and radiation, create a wind of hydrocarbons and nitriles being blown away from its polar regions into space. This is very similar to the wind observed coming from the Earth's polar regions. Titan is a remarkable object in the Solar System. Like Earth and Venus, and unlike any other ...

Study: Abdominal blood clots may indicate undiagnosed cancer

2015-06-18
(WASHINGTON, June 18, 2015) - New research published online today in Blood, the Journal of the American Society of Hematology (ASH), concludes that a blood clot in an abdominal vein may be an indicator of undiagnosed cancer. The study also suggests that these clots predict poorer survival in patients with liver and pancreatic cancer. Compared to the general population, individuals who develop blood clots in their legs (deep-vein thrombosis, or DVT) or lungs (pulmonary embolism, or PE) are two to four times more likely to be diagnosed with cancer within the next year. ...

Risk of major sea level rise in Northern Europe

Risk of major sea level rise in Northern Europe
2015-06-18
Global warming leads to the ice sheets on land melting and flowing into the sea, which consequently rises. New calculations by researchers from the Niels Bohr Institute show that the sea level in Northern Europe may rise more than previously thought. There is a significant risk that the seas around Scandinavia, England, the Netherlands and northern Germany will rise by up to about 1½ meters in this century. The results are published in a special issue of the scientific journal Climate Research. Sea level rise is a significant threat to the world's coastal areas, ...

LAST 30 PRESS RELEASES:

Study finds critically endangered sharks being sold as food in U.S. grocery stores

Meat from critically endangered sharks is commonly sold under false labels in the US

‘Capture strategies’ are harming efforts to save our planet warns scientists

Misconceptions keep some cancer patient populations from benefitting from hormone therapy

Predicting the green glow of aurorae on the red planet

Giant DNA discovered hiding in your mouth

Children lose muscle during early cancer treatment — new ECU study warns of a hidden danger to recovery 

World-first koala chlamydia vaccine approved

Taking the pulse of digital health in Asia

Even healthy children can be severely affected by RSV

Keto diet linked to reduced depression symptoms in college students

Blood test identifies HPV-associated head and neck cancers up to 10 years before symptoms

Odds of dementia strongly linked to number of co-existing mental health disorders

Large social and economic inequalities persist among UK doctors

Research reveals how microplastics threaten Gulf of Mexico marine life

AI tool developed at Oxford helps astronomers find supernovae in a sky full of noise

Hungry star is eating its cosmic twin at rate never seen before

The Age of Feasting: Late Bronze Age networks developed through massive food festivals, with animals brought from far and wide

Study of breast cell changes in motherhood provides clues to breastfeeding difficulties

Seizure spread marks loss of consciousness

Carlos Collet, MD, Ph.D., joins CRF® as director, cardiovascular imaging, physiology and translational therapeutics

Beyond weight loss: How healthy eating cuts chronic pain

Mayo Clinic physician awarded Dr. Scott C. Goodwin Grant for Adenomyosis

Kennesaw State researcher developing electronic nose to detect foodborne illness

New global database opens the door for better understanding of terrestrial ecosystem productivity

Surviving hostile Venus conditions, finding rare earths and other critical metals

New ways of producing methanol from electricity and biomass

Gemini South aids in discovery of elusive cloud-forming chemical on ancient brown dwarf

UIC researchers awarded $8.3M federal grant to study alcohol use disorder

NCCN Policy Summit explores whether artificial intelligence can transform cancer care safely and fairly

[Press-News.org] International team discovers new genetic immunodeficiency
Mutations in the gene DOCK2 leave patients vulnerable to severe early infections