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:7/31/2015)... The 10 th International Conference on Genomics (ICG-10, ... in Shenzhen , China ... anniversary this year. Since its inauguration in 2006, ICG ... in the ,omics, fields, and is one of the most ... focuses on recent breakthroughs and advances in ,omics, research that ...
(Date:7/30/2015)... MOUNTAIN VIEW, Calif. , July 30, 2015 ... products and services for gene function analysis and ... CRISPR Guide RNA (sgRNA) Knockout Library targeting all ... to specifically and permanently "knock out" a gene,s ... library provides a high throughput screening tool so ...
(Date:7/27/2015)... SAN JOSE, Calif. , July 27, 2015 ... leading developer of human interface solutions, today announced ... ClearPad ® touchscreen solution for its stylish ... controller for its proven reliability, low power and ... with a wet finger. Huawei designers also required ...
Breaking Biology News(10 mins):The 10th International Conference on Genomics (ICG-10) to Open in October 2CELLECTA, INC. Announces Launch of Human Whole Genome CRISPR Knockout Library 2Synaptics Touchscreen Solution Powers New Huawei Watch 2Synaptics Touchscreen Solution Powers New Huawei Watch 3
... at the University of California, Berkeley, has identified critical ... By manipulating these pathways, the researchers were able to ... its ability to repair and rebuild itself. The ... of the journal EMBO Molecular Medicine , a ...
... is well known that people from all over the world ... coral reefs and great fishing. Tourism produces approximately 55 % ... of the total workforce in the Bahamas. However, building of ... come and enjoy the natural beauty of the islands can ...
... new study of microscopic marine microbes, called phytoplankton, by ... University of South Carolina has solved a ten-year-old mystery ... ocean. Roughly a decade ago scientists discovered ... matter. Not only were the researchers surprised to find ...
Cached Biology News:Scientists discover clues to what makes human muscle age 2Scientists discover clues to what makes human muscle age 3Scientists discover clues to what makes human muscle age 4Combining sun, sand and science in the Bahamas 2Combining sun, sand and science in the Bahamas 3Mystery solved: Marine microbe is source of rare nutrient 2Mystery solved: Marine microbe is source of rare nutrient 3
(Date:7/29/2015)... College Station, TX (PRWEB) , ... July 29, ... ... cleanroom POD® designer, manufacturer and supplier, announces the launch of their 2nd generation ... compared to the current miniPOD CT, but it also represents a new POD® ...
(Date:7/29/2015)... ... July 29, 2015 , ... ... announced its GHS Label Guide . To align chemical container labeling with ... guide includes explanations of label components, an example of an accurate label, and ...
(Date:7/29/2015)... , July 29, 2015  Therapath Neuropathology ... announces increased partnerships with VA and Military Medical ... Nerve Fiber Density (ENFD) and Sweat Gland Nerve ... fiber neuropathy ( https://therapath.com/skin ). ... Fiber Density (ENFD) on punch skin biopsy is ...
(Date:7/29/2015)... -- Indivior PLC (LON: INDV) today announced that the New ... and received Priority Review by the U.S. Food and ... This naloxone nasal spray comes as a pre-filled device ... the nasal mucosa. 1 The device has been ... better equipped to help an opioid overdose victim. ...
Breaking Biology Technology:G-CON Manufacturing Launches Their 2nd Generation Cell Therapy Cleanroom POD® 2G-CON Manufacturing Launches Their 2nd Generation Cell Therapy Cleanroom POD® 3Brady Announces a New GHS Label Guide 2Neuropathology services for VA and Military health systems 2Indivior PLC Announces FDA Acceptance of Naloxone Nasal Spray New Drug Application With Priority Review 2Indivior PLC Announces FDA Acceptance of Naloxone Nasal Spray New Drug Application With Priority Review 3Indivior PLC Announces FDA Acceptance of Naloxone Nasal Spray New Drug Application With Priority Review 4Indivior PLC Announces FDA Acceptance of Naloxone Nasal Spray New Drug Application With Priority Review 5
... on just about anything: Post-Its, a text file on my laptop, ... ,Recently, I've started trying out a free online service, Ta-Da ... track of to-do items. It was made by 37 Signals ... is why they can offer it free without any advertising. , ...
... career, Bob Weisenberg read a lot of books on management ... the way through yet another book, he realized he had ... in the software industry, Weisenberg says the way to excel ... limited number of skills, not by reading more books about ...
... you like your job (or maybe you're not wild about it) ... that keeps you glued to your desk. , ,It could also ... weather's warmer or after the Cubs opener or some other milestone. ... more of these 10 signs may tell you that your Midwest ...
Cached Biology Technology:Ta-Da Lists makes it fun to check things off 2Northwoods Software co-owner distills 30 years of business experience 2Northwoods Software co-owner distills 30 years of business experience 3Northwoods Software co-owner distills 30 years of business experience 4Ten signs tell you to look for a new tech job 2Ten signs tell you to look for a new tech job 3Ten signs tell you to look for a new tech job 4
Human SPARC-like 1 Biotinylated Affinity Purified PAb...
Request Info...
Any form, any size, any number of mutageneses. ExonBio provides the best service with double sequecing to make sure the success of the mutagenesis....
Request Info...
Biology Products: