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

gene in several patients who suffered low CD4 T cell counts as a result of other conditions.

One of the three patients, a 32-year-old woman with a history of recurrent infections, had a missense mutation in her Unc119 gene. The same mutation was not present in other lymphopenia patients nor in any genetic database.

The researchers then performed several studies with the woman's blood cells, to understand the mutation's effect. They introduced the mutated gene into normal T cells and examined the outcome. The mutation prevents Lck activation and its downstream signaling. It also reduces the amount of Lck found near the plasma membrane, where it plays a major role in propagating signals from the T-cell receptor. Proliferation of T cells, which normally occurs on stimulation of T-cell receptors, was profoundly reduced in cells from the patient.

"Since we originally published our findings earlier this year, we have received inquiries from many physicians with lymphopenia subjects," said Dr. Alam. "Working with them, we expect to find several more patients with this novel mutation, which should help us better understand its effect, improve diagnosis and possibly find therapies."

At this point there is no treatment for CD4 lymphopenia caused by this mutation other than close monitoring of the patient and treatment of resulting infections and malignancies.


'/>"/>

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:12/19/2014)... 2014 Research and Markets ( http://www.researchandmarkets.com/research/86ncd6/micro_market ) has ... America Perimeter Security Systems Market" report to their offering. ... North American perimeter security market is estimated to grow at ... U.S. market holds a larger share in this market, ...
(Date:12/17/2014)... 15, 2014  HITLAB SM announced today its completion ... its adherence to current U.S. Food and Drug Administration ... smart device and smart phone application trials utilizing the ... "HITLAB is determined to improve global healthcare access, ...
(Date:12/11/2014)... Dec. 09, 2014 Research and Markets ... http://www.researchandmarkets.com/research/twhjll/biometrics_market ) has announced the addition of the ... their offering. One major trend emerging ... advances in technology, it is important to upgrade biometric ...
Breaking Biology News(10 mins):Micro Market Monitor: North America Perimeter Security Systems Market (Intrusion Detection Sensor, Video Surveillance, Communication/Alarm and Notification, Access Control System) 2Micro Market Monitor: North America Perimeter Security Systems Market (Intrusion Detection Sensor, Video Surveillance, Communication/Alarm and Notification, Access Control System) 3HITLAB Completes GCP Audit for FDA Smart Device & App Compliance 2Biometrics Market in the APAC Region 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2
... 2012 In a study published in the March ... Academy of Child and Adolescent Psychiatry , Katherine Rice ... of Atlanta, and Emory University School of Medicine, used ... social disability in children with autism spectrum disorders (ASD) ...
... team of researchers show that most neandertals in Europe died ... a Europe populated by a stable neandertal population for hundreds ... therefore be revised. This new perspective on the ... in Molecular Biology and Evolution . The results indicate ...
... PHOENIX, Ariz. Feb. 27, 2012 The 9th ... pancreatic cancer research at the Translational Genomics Research Institute ... will go toward new international clinical trials run by ... first time that major retailers, producers and suppliers in ...
Cached Biology News:Eye-tracking reveals variability in successful social strategies for children with autism 2European Neandertals were on the verge of extinction even before the arrival of modern humans 2Celebrity Golf Classic raises $553,443 for Seena Magowitz Foundation 2
(Date:1/22/2015)... RI (PRWEB) January 22, 2015 Protocol ... , The growing team of brand-neutral, independent consultants, Protocol ... Philip Rogers explained that over the years, his company ... , Moroso, Town of Plainfield, as well as others. ...
(Date:1/22/2015)... January 22, 2015 zFlo Motion , ... to announce an exciting product from a new partner. ... solutions over the past 15 years, with offerings in the ... their 3D IMU system (inertial measurement unit), iSen, is opening ...
(Date:1/22/2015)... 22, 2015 Selexis SA, a serial ... Cell Banks (RCBs) used for drug discovery to commercial ... will include Next-Generation Sequencing (NGS) data packages. ... biologic manufacturing by ensuring the integrity of the gene, ...
(Date:1/22/2015)... DIEGO , Jan. 22, 2015   Cypher ... and Sequenom, Inc. (NASDAQ: SQNM ), ... development agreement for next generation noninvasive prenatal tests ... genome interpretation technology, called Mantis™, to advance analysis ...
Breaking Biology Technology:Protocol Networks Brings Independent Technology Consulting to the Constitution State 23D Motion Capture Just Got Easy 2Selexis Generated Research Cell Banks Now Fully Sequenced Using Next-Generation Sequencing 2Cypher Genomics and Sequenom Announce Development Agreement 2Cypher Genomics and Sequenom Announce Development Agreement 3Cypher Genomics and Sequenom Announce Development Agreement 4
... first isolated in 2004 with the help of Scotch ... discover its potential applications. A single layer of carbon ... to flexible displays, graphene is strong, light, transparent, and ... we do with this new material? As researchers across ...
... International, Inc. (OTC Bulletin Board: MZEI ) (OTCQB: ... stock purchase agreement establishing a $10,000,000 equity line with Mammoth ... two-year term.  Under the terms of the agreement, Mammoth will ... the average closing bid price over a five day pricing ...
... 2010 GeneLink, Inc. (OTCBB: GNLK ), a leading consumer ... ended September 30, 2010. Highlights: ... Deloitte,s Technology Fast 500™ for the second year in a row ... Gary Beeman, GeneLink,s CEO stated, "The third quarter of ...
Cached Biology Technology:Doctoral candidate publishes on graphene's potential with NSF support 2Doctoral candidate publishes on graphene's potential with NSF support 3Doctoral candidate publishes on graphene's potential with NSF support 4Medizone International Secures $10,000,000 Funding Commitment 2Medizone International Secures $10,000,000 Funding Commitment 3GeneLink Reports Third Quarter Results 2
IMAGEQUANT 400 WKSTN, 1 EA. Category: ImageQuant CCD Imagers....
PAb to Hu-IFN-Alpha/Beta R2 [(IFNAR2) CD118], Rabbit Serum, neutralizing Binds to but does not neutralize human interferon alpha/beta receptor...
ANTI MYCOBACTERIUM TUBERCULOSIS...
ImageQuant 400, 1 EA. Category: ImageQuant CCD Imagers....
Biology Products: