Gene Therapy Corrects Sickle Cell Disease in Laboratory Study MarketWatch - Dec 3, 2008 We think that increased fetal hemoglobin expression in patients will be well tolerated and the immune system would not reject the hemoglobin, in comparison ...
Search this blog ScienceBlogs - Inject a gene therapy AAV-2 into someone, and odds are the viruses will never reach their intended targets. Itll be creamed by the patient immune system. ...
Grant funds organ transplant research Augusta Chronicle, GA - Dec 2, 2008 The molecule appears to deactivate the response of killer T cells in the immune system and also promotes regulatory or suppressive T cells that tamp down an ...
Search this blog ScienceBlogs - Dec 3, 2008 This means that rather than getting a freak-out-inflammatory response where your immune system goes nuts when the vaccine virus reactivates (causing painful ...
Recent News and Articles on the Keywords: immune system + immune + gene Related to the article below (Last Update: 8/4/2008)
Cutting The Brakes On The Immune System; Newly Discovered Gene... Science Daily (press release) - Aug 2, 2008 "When the gene doesn't function properly, the immune system redlines." The research, done in conjunction with David Altshuler, MD, Ph.D., a researcher at ...
New gene mutation implicated in lupus Fresh News, India - Aug 3, 2008 By ANI on Sunday, August 3, 2008 Scientists at the Oklahoma Medical Research Foundation have identified a gene mutation that may cause the immune system to ...
New Immune Disease Identified Science Daily (press release) - Aug 1, 2008 To deal with them, we have a highly effective immune system that allows our bodies to identify and eliminate agents that cause infections. ...
Key To Virulence Protein Entry Into Host Cells Discovered Science Daily (press release) - Once inside the plant cell, the proteins suppress the immune system of the plant allowing the infection to progress. The work, which focused on the ...
Newly Identified Genetic Deficiency in Children Illuminates Immune... Howard Hughes Medical Institute, MD - Jul 31, 2008 IRAK-4 is an important signaling molecule involved in mediating the immune system. In an international survey, the team found nine infection-prone children ...
Nanopoint's CellTRAY Imaging System Model CT-2000 Applauded By Laboratory Network, PA - 53 minutes ago ... and process development, apoptosis, G-protein coupled receptors, stem cells, insulin-producing beta cells and dendritic cells in the immune system. ...
Montreal Heart Institute researchers contribute to the discovery ... Canada NewsWire (press release), Canada - Aug 1, 2008 Lupus is a chronic "autoimmune" disease in which the body's immune system attacks healthy tissues and organs. Symptoms range from skin rashes and joint pain ...
Discovery of altered genes may aid lupus knowledge NewsOK.com (subscription), OK - Aug 2, 2008 Lupus is an autoimmune disease that causes the immune system to attack itself. It most commonly affects the skin, joints and kidneys and is predominately ...
RNA Silencing: The Genome's Immune System - RHA Plasterk - Science, 2002 - sciencemag.org ... for (experimental) immune therapy, a thorough understanding of the genome's immune system has great potential for applications in directed gene silencing, in ...
Function and Activation of NF-kappaB in the Immune System - PA Baeuerle, T Henkel - Annual Reviews in Immunology, 1994 - Annual Reviews ... in turn relies on inducible transcription factors turning on the factor?s gene. ... we
concentrate on the activation and function of NF-B in the immunesystem. ...
Decoding the Patterns of Self and Nonself by the Innate Immune System - R Medzhitov, CA Janeway - Science, 2002 - sciencemag.org ... NK cell function and is in fact widely used by the innate immunesystem. ... This is
because all self cells ubiquitously express several gene products, including ...
Immune system in suicide-gene therapy. - SM Freeman, R Ramesh, AJ Marrogi - Lancet, 1997 - ncbi.nlm.nih.gov Lancet. 1997 Jan 4;349(9044):2-3. Click here to read Immunesystem in
suicide-gene therapy. Freeman SM, Ramesh R, Marrogi AJ. Department ...
[BOOK] Artficial Immune Systems and Their Applications - D DasGupta - 1998 - Springer-Verlag New York, Inc. Secaucus, NJ, USA ...Immune-Evolutionary Algorithm for Multiple Rearrangements of Gene Expression Data ...
Control Simulation Based on an Artificial ImmuneSystem, Applied Intelligence ...
Defective gene associated with two immune system disorders
Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections.
The discovery may lead to new diagnostic tests for these two inherited conditions--immunoglobulin A ( IgA ) deficiency and common variable immunodeficiency ( CVID ).
Currently, doctors diagnose the conditions by measuring immunoglobulin levels and excluding other causes for lowered immunoglobulin levels; there are no specific tests to detect the two disorders.
A deficiency of IgA--an important type of infection-fighting antibody found in tears, saliva and other secretions--affects 1 in 600 people in the western world; CVID is less common but more severe.
Both conditions result in a person being more susceptible to pneumonia and to recurring infections of the ear, sinus and gastrointestinal tract.
People with CVID also have an increased risk of developing cancers that affect B cells, cells that produce antibodies. Furthermore, IgA deficiency and CVID can predispose to autoimmune diseases, where the immune system turns against the body's own tissues and organs.
" Most cases of CVID and IgA deficiency are of unknown cause," notes Josiah Wedgwood, of the Clinical Immunology Branch of the National Institute of Allergy and Infectious Diseases ( NIAID ). " To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that can lead to immunodeficiencies."
The study, led by Raif Geha, and Emanuela Castigli, of the Children's Hospital Boston, is published in Nature Genetics.
The Boston team found specific mutations in a gene known as TACI, which plays a specific role in orchestrating the immune response. Defects in TACI were found in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people they studied had a TACI mutation. The scientists believe that it is likely that as yet unidentified genetic defects underlie CVID and IgA deficiency in those cases where TACI was not mutated.
When the scientists further examined four of the five individuals with TACI mutations, they found all four had relatives with the same mutations. Eleven of the 12 identified relatives with CVID or IgA deficiency reported a history of recurrent infections and were also found to have low levels of IgA and/or low levels of another type of antibody, immunoglobulin G ( IgG ).
TACI mutations interfere with two aspects of the immune response that involve maturation of B cells. Normally, TACI triggers B cells to switch from making immunoglobulin M ( IgM ), an antibody produced early in the immune response, to making other antibodies such as IgA and IgG. More important, TACI signals B cells to produce antibodies against specific invading bacteria and viruses.
Because TACI mutations are genetically dominant, a person with TACI mutations in one of the two TACI genes he or she inherits is unable to mount a strong antibody response. Each child of a person so affected has a fifty percent chance of inheriting the mutation and being predisposed to IgA deficiency and CVID.
"A test for TACI defects would enable the diagnosis of more children and their relatives with these immune deficiencies," says Geha, senior author of the study and at Harvard Medical School. " Many children who are sick with these disorders are now missed, because they can have normal IgA and IgG levels, yet they still have poor antibody responses and get the same bacterial and virus infections again and again."
But the gene discovery will not immediately change treatment strategies, notes Geha. "For the time being, therapy still consists of prophylactic antibiotics or intravenous immunoglobulin infusions every three weeks," he says.
