HOME >> BIOLOGY >> NEWS
Gene for immune deficiency syndromes found

A newly discovered gene mutation may account for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID), report researchers in the July issue of Nature Genetics. The discovery may lead to a new diagnostic test for these conditions, which make people highly susceptible to infections and often go unrecognized because of a lack of good tests.

IgA deficiency affects 1 in 600 people; CVID is less common but more severe. Children and adults with either condition suffer relentlessly recurring ear infections, sinus infections, bronchitis, pneumonias and gastrointestinal infections. IgA deficiency and CVID can occur in the same family, and also predispose people to autoimmunity, particularly affecting the thyroid gland and resulting in thyroid hormone insufficiency. Finally, people with CVID are susceptible to B-cell lymphomas.

The researchers, led by Raif Geha, MD, and Emanuela Castigli, PhD, in the Division of Immunology at Children's Hospital Boston, found mutations in a gene known as TACI in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people tested had a TACI mutation. Four of the 5 patients with TACI mutations were studied further, and all 4 had relatives with the same mutations. Eleven of the 12 identified relatives with TACI or IgA deficiency reported a history of recurrent infections and were found to have low levels of immunoglobulin A (IgA), immunoglobulin G (IgG) or both.

TACI mutations interfere with two aspects of the immune response that involve maturation of B cells, the white blood cells that make immunoglobulins, which function as antibodies, to fight infections. Normally, TACI triggers B cells to switch from making immunoglobulin M (IgM), an antibody produced early in the body's immune response, to making other immunoglobulins like IgA and IgG. More important, TACI si
'"/>

Contact: Aaron Patnode
aaron.patnode@childrens.harvard.edu
617-355-6420
Children's Hospital Boston
10-Jul-2005


Page: 1 2

Related biology news :

1. Bursts of waves drive immune system soldiers toward invaders
2. A friendly foe -- Bacteria residing in the gut boost immune response to tumors
3. A stepwise retreat: How immune cells catch pathogens
4. Link between immune system and mammary gland could shed new light on breast cancer
5. Researchers discover method for identifying how cancer evades the immune system
6. Invertebrate immune systems are anything but simple, conference finds
7. Mucosal-surface immune function discoveries could boost vaccine research
8. LIAI researchers identify a potential role for retinoic acid in autoimmune and inflammatory diseases
9. UCLA researchers discover novel pathway that may promote immune system balance
10. Pregnant moms exposure to flu vaccine kick-starts fetal immune system
11. Cytomegalovirus exacerbates atherosclerosis through an autoimmune mechanism

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/10/2019)... DIEGO (PRWEB) , ... October 09, 2019 , ... ... merger-acquisition of Nanosens Innovations, Inc., the creators of CRISPR-Chip™. Cardea first broke ... of their Early Access Program for the Genome Sensor™. Built with CRISPR-Chip technology, ...
(Date:10/8/2019)... ... October 08, 2019 , ... ... the National Research Council of Canada (NRC) to create the Laboratory of ... technologies and in manufacturing, LIFT will offer a competitive capacity to accelerate ...
(Date:10/8/2019)... ... 07, 2019 , ... The future of medicine in the 21st century will ... living longer, healthier lives. But it will be up to each individual to make ... PhD, Chief Strategy Officer and Co-Founder of the Institute for Systems Biology and Senior ...
Breaking Biology News(10 mins):
(Date:10/8/2019)... ... October 08, 2019 , ... Today, Massachusetts stem cell ... lead development technology. Like the company’s precursor patent, approved in the U.S. in ... of tissue stem cells. Asymmetrex now markets the technology in the U.S. as ...
(Date:10/3/2019)... ... October 02, 2019 , ... Murrieta Genomics , the launch ... venture capital companies in Silicon Valley at a special Life Science showcase event ... be held at the JJ Lake Business Center located at 340 E. Middlefield Road ...
(Date:9/30/2019)... ... September 30, 2019 , ... The September 2019 edition of ... is now available online on the company’s global website. The Bridge features current ... fluorescence and imaging, and presents articles, scientific papers and news reports. , ...
(Date:9/24/2019)... ... September 24, 2019 , ... ... has completed training and site qualification for clinical trial sites and physician investigators. ... screening of potential clinical trial participants. , Clinical trial sites are currently located ...
Breaking Biology Technology:
Cached News: