Navigation Links
New genetic mechanism of immune deficiency discovered
Date:4/20/2012

Researchers at National Jewish Health have discovered a novel genetic mechanism of immune deficiency. Magdalena M. Gorska, MD, PhD, and Rafeul Alam, MD, PhD, identified a mutation in Unc119 that causes immunodeficiency known as idiopathic CD4 lymphopenia. Unc119 is a signaling protein that activates and induces T cell proliferation. The mutation impairs Unc119 ability to activate T cells. Dr. Gorska, will present her findings April 20 at Translational Science 2012, an NIH-funded conference in Washington D.C.

"A better understanding of the molecular mechanisms associated with this mutation will improve diagnosis and pave the way for development of new therapies," said Dr. Gorska.

Drs. Gorska and Alam previously published their findings in the journal Blood and Dr. Gorska delivered a Presidential Plenary on the topic at the annual meeting of the American Academy of Allergy Asthma & Immunology.

Nearly a decade ago Drs. Alam and Gorska identified Unc119 as a novel activator of SRC-type tyrosine kinases, important regulators of cellular function. Since then, they have published numerous papers where they characterized the function of this protein in various aspects of the immune system. Idiopathic CD4 lymphopenia is a rare and heterogeneous syndrome defined by low levels of CD4 T cells in the absence of HIV infection, which predisposes patients to infections and malignancies. Recent research by others had linked the syndrome to reduced activation of the SRC-type kinase known as Lck. The latter kinase is involved in T cell development, activation and proliferation.

So, Drs. Alam and Gorska thought Unc119, an activator of Lck, might be involved. They kept an eye out for patients with CD4 lymphopenia coming to National Jewish Health, which specializes in immune-related disorders as well as respiratory and cardiac diseases. They identified three patients with CD4 lymphopenia, then sequenced their Unc119 gene as well as the Unc119
'/>"/>

Contact: William Allstetter
303-398-1002
National Jewish Health
Source:Eurekalert

Page: 1 2

Related biology news :

1. Rare genetic disorder gives clues to autism, epilepsy, mental retardation
2. Genetic Engineering & Biotechnology News reports on growing role of molecular diagnostics
3. Study finds genetic variant plays role in cleft lip
4. Genetic finding implicates innate immune system in major cause of blindness
5. American College of Medical Genetics receives $13.5M NIH contract
6. Clue to genetic cause of fatal birth defect
7. Can genetic information be controlled by light?
8. The American Society of Human Genetics hosts 58th Annual Meeting in Philadelphia
9. Modern genetics vs. ancient frog-killing fungus
10. Genetic based human diseases are an ancient evolutionary legacy
11. Genetic evidence for avian influenza movement from Asia to North America via wild birds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/22/2014)... of nanomaterials for application in devices may be addressed ... conducted by scientists from the National University of Singapore ... and low cost technique involving a focused laser beam, ... Haur from the Department of Physics at the NUS ... different types of materials can be controlled and modified, ...
(Date:7/22/2014)... NY -- As part of a multinational, collaborative effort, ... Sinai have helped identify over 100 locations in the ... in the largest genomic study published on any psychiatric ... published online in Nature , point to biological ... lead to new approaches to treating the disorder, which ...
(Date:7/22/2014)... trees and not just asphalt and recreation equipment reduces ... Colorado Boulder study. , Working on class assignments or ... youth, according to a paper published in the journal ... of the first of its kind to focus on ... stress. , "Many schools already offer stress management programs, ...
Breaking Biology News(10 mins):NUS scientists use low cost technique to improve properties and functions of nanomaterials 2NUS scientists use low cost technique to improve properties and functions of nanomaterials 3Mount Sinai scientists and international team shed new light on schizophrenia 2Mount Sinai scientists and international team shed new light on schizophrenia 3Natural-terrain schoolyards reduce children's stress, says Colorado University-Boulder study 2Natural-terrain schoolyards reduce children's stress, says Colorado University-Boulder study 3
... their unborn pups. Because the smell of a strange ... cycle, pregnant mice prevent the action of such olfactory ... Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, have now ... the chemical signal dopamine in the main olfactory bulb ...
... using statistical pattern recognition and image processing to ... explosives. , Under a grant funded by ... National Science Foundation, UC San Diego structural engineering ... an imagery-based surveillance technique which uses visible and ...
... cell research help both scientists and regulators to manage ... by the Economic and Social Research Council. Efforts to ... act where the autonomy of scientists and fragility of ... for comparable data. The ambition in many ...
Cached Biology News:Pregnant mice block out unwelcome admirers to protect their pups 2UC San Diego researchers could help US military thwart explosive threats 2UC San Diego researchers could help US military thwart explosive threats 3Standards in stem cell research 2Standards in stem cell research 3
(Date:7/23/2014)... , July 23, 2014  GrowBLOX Sciences, Inc. (OTCQB: GBLX), ... it is filing for two medical marijuana dispensary locations in ... in addition to the Clark County, Nevada ... use permit, as previously announced.  GrowBLOX Sciences, CEO ... submitting two new applications for dispensaries in the ...
(Date:7/23/2014)... 2014 a2z Inc. announces that AACC ... AACC Pathfinder, in its 2014 Annual Meeting & ... is planned for July 29-31, 2014 in Chicago, IL ... to connect with global leaders in clinical chemistry, molecular ... areas of breaking science in laboratory medicine. , ChirpE ...
(Date:7/22/2014)... a phylum so full of mean little creatures, the yellow-colored ... cruelty -- at least to crickets. Native to the southeastern ... predatory sort of parasite. It swoops onto the back of ... leaves its wicked brood to invade, kill and consume the ... be possible without the fly,s ability to find a cricket ...
(Date:7/22/2014)... Albany, New York (PRWEB) July 22, 2014 ... the world. The heat produced by controlled fission chain ... pressure. This steam pressure is used to drive a ... produce approximately 19% of the world’s total electricity production. ... due to several under construction, planned and proposed nuclear ...
Breaking Biology Technology:GrowBLOX Sciences, Inc. Files for Two Additional Medical Marijuana Dispensaries in Las Vegas 2GrowBLOX Sciences, Inc. Files for Two Additional Medical Marijuana Dispensaries in Las Vegas 3AACC Enhances Attendee Experience at Its 2014 Annual Meeting & Clinical Lab Expo with a2z-Powered ChirpE Photo Booth and Mobile App 2AACC Enhances Attendee Experience at Its 2014 Annual Meeting & Clinical Lab Expo with a2z-Powered ChirpE Photo Booth and Mobile App 3Fly-inspired sound detector 2Fly-inspired sound detector 3Fly-inspired sound detector 4Nuclear Energy Market: Global Industry Analysis, Size, Share, Analysis, Growth and Forecast 2013 - 2019 2Nuclear Energy Market: Global Industry Analysis, Size, Share, Analysis, Growth and Forecast 2013 - 2019 3
... hit a nerve. , , I heard from a number ... 2.0 is spelled b-u-b-b-l-e, and who want none of it. As ... use a healthy dose of caution to prevent the heavy Kool-Aid ... group. , ,Indeed, in dozens of conversations with start-ups seeking a ...
... before... ... and after its recent redesign The ... Web site, as well as tweaking its search engine to hopefully ... information. , ,After keeping roughly the same design since mid-2002, the ... studies and surveys. Among other features, the site has links to ...
... Department of Agriculture is launching a $1 million program ... development of renewable energy sources and materials. , ,Of ... up to $150,000 each for businesses or individuals working ... Proposals are due March 1, and applications can be ...
Cached Biology Technology:Can we prevent Web 2.0 from being a bubble? 2Can we prevent Web 2.0 from being a bubble? 3
Adhesive seal-tab, for HybriWell™ hybridization sealing system *set of 400*...
...
... Kit contains choice of PDMS Stamps (3 ... / 200 micron squares or 100 um ... 10 mm lines, 3 PDMS nano-patterned stamps ... nm and pitch of 400 nm, or ...
...
Biology Products: