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 $13.5M NIH contract
6. Clue to genetic cause of fatal birth defect
7. Can genetic information be controlled by light?
8. The American Society of Human Genetics hosts 58th Annual Meeting in Philadelphia
9. Modern genetics vs. ancient frog-killing fungus
10. Genetic based human diseases are an ancient evolutionary legacy
11. Genetic evidence for avian influenza movement from Asia to North America via wild birds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2015)... , June 24, 2015 Biometry ... with emerging biometric password solution one face in. ... one face in, entering the ... ground-breaking and affordable multifactor-authentication biometric answer to the ... technology, provided in partnership with KeyLemon, one face ...
(Date:6/18/2015)... NEW YORK , June 18, 2015 ... in US$ Million by the following Product Segments, which ... Immunoassay Systems, Chemiluminescence Immunoassay Systems, Radio Immunoassay Systems, and ... for the US, Canada , ... Asia-Pacific , Latin America ...
(Date:6/17/2015)... Fla. , June 17, 2015  Crossmatch™, ... today announced that its U.are.U ® 4500 ... Togo,s Eateries, Inc., a ... sandwich chain, to increase security, improve accountability and ... readers enable instant, non-repudiable identity confirmation for employee ...
Breaking Biology News(10 mins):KeyLemon Announces Partnership With Biometric Password Solution onefacein 2Global Immunoassay Systems Market 2Global Immunoassay Systems Market 3Global Immunoassay Systems Market 4Global Immunoassay Systems Market 5Global Immunoassay Systems Market 6Global Immunoassay Systems Market 7Global Immunoassay Systems Market 8Global Immunoassay Systems Market 9Global Immunoassay Systems Market 10Global Immunoassay Systems Market 11Global Immunoassay Systems Market 12Global Immunoassay Systems Market 13Global Immunoassay Systems Market 14Global Immunoassay Systems Market 15Global Immunoassay Systems Market 16Global Immunoassay Systems Market 17Global Immunoassay Systems Market 18Global Immunoassay Systems Market 19Global Immunoassay Systems Market 20Global Immunoassay Systems Market 21Global Immunoassay Systems Market 22Global Immunoassay Systems Market 23Global Immunoassay Systems Market 24Global Immunoassay Systems Market 25Global Immunoassay Systems Market 26Global Immunoassay Systems Market 27Global Immunoassay Systems Market 28Global Immunoassay Systems Market 29Togo's Eateries Improve Security and Accountability with Crossmatch Fingerprint Readers 2Togo's Eateries Improve Security and Accountability with Crossmatch Fingerprint Readers 3
... New research shows that following a vegetarian diet and ... risk of diabetes in African Americans, who are twice as ... whites. "These findings are encouraging for preventing ... susceptible to the disease than other populations," said Serena Tonstad, ...
... York, November 3, 2011 Impulsive individuals tend ... drug and alcohol abuse, to problem gambling and difficult ... social situations. Impulsivity is also a common feature of ... shows that people may react this way, in part, ...
... which people use before progressing to the use of ... this progression is called the "gateway sequence" of drug ... by Amir Levine, MD, Denise Kandel, PhD; Eric Kandel, ... the first molecular explanation for the gateway sequence. They ...
Cached Biology News:Vegetarian diet, physical activity protect against diabetes in black population, study shows 2Impulsive versus controlled men: Disinhibited brains and disinhibited behavior 2Nicotine primes brain for cocaine use: Molecular basis of gateway sequence of drug use 2
(Date:6/30/2015)... San Francisco, CA (PRWEB) , ... June 30, ... ... in FMT Patients , Study will provide new insights on mechanics of fecal ... announced a new partnership to study the microbiome of patients undergoing fecal microbiota ...
(Date:6/30/2015)... June 30, 2015  The University of California, ... (CCE/Bio) and UC San Diego Extension announced their ... held Aug.  12 – 14, 2015, at UC ... workshop provides an intense exposure to best practices ... is well-suited to biologists, process engineers and business ...
(Date:6/30/2015)... ... June 30, 2015 , ... Smarter Alloys today announced a ... archwire that allows orthodontists to simultaneously apply different forces to different teeth. The ... “We’re thrilled about taking SmartArch one step closer to commercial availability for orthodontists ...
(Date:6/29/2015)... (PRWEB) , ... June 29, 2015 , ... ... significant CAGR of around 19% during the forecast period (2015 to 2020). The ... and upsurge in government and corporate funding for R&D. However, lack of adequate ...
Breaking Biology Technology:uBiome and OpenBiome Partner for Microbiome Study in FMT Patients 2uBiome and OpenBiome Partner for Microbiome Study in FMT Patients 3UC San Diego Extension to Offer Third Annual Microbial Fermentation Workshop 2New case studies for SmartArch orthodontic archwire paves way to product launch later this year 2Microfluidics Market Growing at 19.3% CAGR To 2020 – New research available at ReportsnReports.com 2Microfluidics Market Growing at 19.3% CAGR To 2020 – New research available at ReportsnReports.com 3Microfluidics Market Growing at 19.3% CAGR To 2020 – New research available at ReportsnReports.com 4Microfluidics Market Growing at 19.3% CAGR To 2020 – New research available at ReportsnReports.com 5
... ... ,For Excellence In The International Marketplace. , ... (PRWEB) March 24, 2010 -- Sterlitech Corporation, one of the ... acceptance of the prestigious Faces of Trade® Award presented by the US Chamber of ...
... , ... , ... ... NEW YORK , March 23 The Michael J. Fox Foundation announced that monoclonal ...
... Qteros, Inc., and the University of Massachusetts Amherst announced today that the ... Producing Biofuels and Related Materials" describing the novel creation of products, including biofuels, through the fermentation ... ... ...
Cached Biology Technology:US Chamber Of Commerce Honors Sterlitech Corporation 2Michael J. Fox Foundation Offers High-Quality LRRK2 Antibodies for PD Therapeutic Development 2Michael J. Fox Foundation Offers High-Quality LRRK2 Antibodies for PD Therapeutic Development 3Michael J. Fox Foundation Offers High-Quality LRRK2 Antibodies for PD Therapeutic Development 4Qteros and UMass Amherst Announce the Issuance of a U.S. Patent for Production of Ethanol From a Unique Microorganism, the Q Microbe(TM) 2Qteros and UMass Amherst Announce the Issuance of a U.S. Patent for Production of Ethanol From a Unique Microorganism, the Q Microbe(TM) 3Qteros and UMass Amherst Announce the Issuance of a U.S. Patent for Production of Ethanol From a Unique Microorganism, the Q Microbe(TM) 4Qteros and UMass Amherst Announce the Issuance of a U.S. Patent for Production of Ethanol From a Unique Microorganism, the Q Microbe(TM) 5Qteros and UMass Amherst Announce the Issuance of a U.S. Patent for Production of Ethanol From a Unique Microorganism, the Q Microbe(TM) 6