Navigation Links
Scientists discover new genetic immune disorder in children
Date:6/4/2009

ed, and ultimately abnormalities were found in a number of other cases.

All the children had inherited mutations in IL1RN, a gene that encodes a protein known as interleukin-1 receptor antagonist (IL-1Ra). IL-1Ra binds to the same cell receptors as the inflammatory protein interleukin-1, and acts as a brake on this inflammatory protein. Without IL-1Ra, the children's bodies cannot control systemic inflammation that can be caused by interleukin-1.

The scientists identified nine patients from six families with DIRA in the Canadian province of Newfoundland, the Netherlands, Lebanon, and Puerto Rico. Those who were alive at the time of diagnosissix in allwere treated with anakinra, a drug that is normally used for rheumatoid arthritis and is a synthetic form of human IL-1Ra. Although the patients were resistant to other medications such as steroids, most responded successfully and immediately to anakinra. "Our first patient had been unresponsive to several treatments, and his health care team had almost given up. But with anakinra, he was out of the hospital in 10 days and his symptoms resolved," Dr. Goldbach-Mansky said.

Although the mutation that causes DIRA is rare, as many as 2.5 percent of the population of northwest Puerto Rico are carriers. Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Because the mutation was found in three independent Dutch families, newborn screening for DIRA in this population, as well as that of northwest Puerto Rico, may be warranted, Dr. Goldbach-Mansky said.

"The DIRA discovery can be attributed to an innovative and collaborative effort between clinicians and laboratory researchers at NIAMS and an international team of dedicated investigators," said NIAMS Clinical Director and coauthor Daniel L. Kastner, M.D., Ph.D. "Moreover, the unveiling of this novel autoinflammatory syndrome provides us with a tool to further dissect t
'/>"/>

Contact: Trish Reynolds
reynoldsp2@mail.nih.gov
301-496-8190
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. UK scientists working to help cut ID theft
2. Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
3. Comet probes reveal evidence of origin of life, scientists claim
4. Scientists link fragile X tremor/ataxia syndrome to binding protein in RNA
5. Male elephants get photo IDs from scientists
6. Scientists retrace evolution with first atomic structure of an ancient protein
7. Muscle mass: Scientists identify novel mode of transcriptional regulation during myogenesis
8. Carnegie Mellon scientists develop nanogels that enable controlled delivery of carbohydrate drugs
9. Clemson scientists shed light on molecules in living cells
10. Scientists tackle mystery mountain illness
11. T. rex quicker than Becks, say scientists
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/19/2014)... and Markets ( http://www.researchandmarkets.com/research/86ncd6/micro_market ) has announced ... America Perimeter Security Systems Market" report to their ... The North American perimeter security market is estimated ... to 2019. Although the U.S. market holds a larger ... is expected to grow at a higher CAGR of ...
(Date:12/17/2014)... , Dec. 15, 2014  HITLAB SM ... Clinical Practices (GCP) audit to confirm its adherence ... regulations. This accomplishment enables HITLAB to conduct regulated ... the highest principles for patient safety and research ... global healthcare access, quality, and delivery with innovative ...
(Date:12/11/2014)... 09, 2014 Research and Markets ... ( http://www.researchandmarkets.com/research/twhjll/biometrics_market ) has announced the addition ... Region 2015-2019"  report to their offering. ... is advances in technology. With continuous advances in ... to the latest standard that meets the needs ...
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
... ANN ARBOR, Mich.---The muscle-building abilities of hormones known as ... search and you,ll find not only scientific papers discussing the ... muscle tissue, but also scores of ads touting the purported ... spite of widespread interest in these potent molecules, key details ...
... 2010) -- The popular forage and turf grass called tall fescue ... area that,s estimated to be larger than Virginia and Maryland combined ... Indiana University suggests there is more to fescue than meets the ... in the Journal of Applied Ecology , show that a ...
... ( P. vivax ) malaria has been identified in ... those who do not express the Duffy blood group protein ... Western Reserve University School of Medicine, Pasteur Institute, and the ... 600 individuals from eight communities covering the main malaria transmission ...
Cached Biology News:U-M researchers solve a molecular mystery in muscle 2Study: Grass, fungus combination affects ecology 2Duffy-negative blood types no longer protected from P. Vivax malaria 2Duffy-negative blood types no longer protected from P. Vivax malaria 3
(Date:12/24/2014)... San Diego, CA (PRWEB) December 23, 2014 ... Contest where their Twitter followers can submit their ... for themselves and their lab mates. , For those ... beloved lab mates, the Pipette.com Holiday in the Lab ... encourages Pipette.com Twitter followers to send pictures ...
(Date:12/24/2014)... 23, 2014 Vermillion, Inc. (Nasdaq:   ... disease, announced today that investors including Oracle Investment ... LLC and several Vermillion directors have agreed to ... Vermillion,s common stock and warrants to purchase unregistered ... placement.  Under the terms of ...
(Date:12/24/2014)... ST. LOUIS , Dec. 23, 2014 /PRNewswire/ ... announced today that the waiting period under the ... with the acquisition expired on December 22, 2014, ... and review requirement for the acquisition of the ... U.S. antitrust clearance satisfies another condition to ...
(Date:12/24/2014)... and NEW YORK , Dec. ... its open-label pilot study of mazindol in children with ... and Therapy in December 2014 . ... in children with attention deficit/hyperactivity disorder" ( Konofal et ... 2014 Dec 1;8:2321-2332. eCollection 2014 ) shows that ...
Breaking Biology Technology:Major Pipette Distributor Pipette.com Announces their Holiday in the Lab Contest 2Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 2Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 3Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 4Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 5Acquisition of Sigma-Aldrich by Merck KGaA, Darmstadt, Germany, Receives U.S. Antitrust Clearance 2Acquisition of Sigma-Aldrich by Merck KGaA, Darmstadt, Germany, Receives U.S. Antitrust Clearance 3Redefining ADHD: A New Approach & A Shift of Paradigm in ADHD Therapeutics 2Redefining ADHD: A New Approach & A Shift of Paradigm in ADHD Therapeutics 3
... Solar or photovoltaic cells represent one of the best ... virtually inexhaustible source of energy to power our civilization. ... need to be made from inexpensive elements using low-cost, ... and cost-competitively convert sunlight into electricity. A team of ...
... Bio-Holdings, Ltd. - (OTCBB: HADSY ), a publicly ... property developed and owned by Hadassah University Hospital, Israel,s ... Mr. Ophir Shahaf, will present at the Rodman & ... on Tuesday, September 13, 2011 at 12:05 p.m. ET. ...
... MOUNTAIN VIEW, Calif., Aug. 31, 2011 VIVUS, Inc. ... management, including Leland Wilson, Chief Executive Officer; Timothy Morris, ... President, Clinical Development, will participate in three investment conferences ... conference presentation schedule is as follows: Stifel ...
Cached Biology Technology:Down to the wire 2Down to the wire 3Down to the wire 4Hadasit to Present at the Rodman & Renshaw Annual Global Investment Conference on September 13, 2011 2VIVUS to Participate in Three Investor Conferences in September 2
2,4,6, Trinitrophenyl hapten is conjugated to lipopolysaccharide (LPS)....
... Since the Flp-In System creates isogenic ... equivalent levels of the protein of ... in Figure 3 (click link below). ... for chloramphenicol-acetyl transferase (CAT) was subcloned ...
Fast, sensitive quantitation of total MEK 1/2 concentration....
... automatically rises at the end of determination; triple-point calibration verification; refrigerator eliminates need for pumps and bath liquid; ... * ... ... ...
Biology Products: