Rare Syndrome in children explained

 Rare syndrome in Children:

Advanced genomic technology began in childhood stroke and marked by recurring inflammation syndrome caused by a rare show of support .
An adult and child holding hands .
A 3-year -old girl with fever , rash , red skin , and that left him severely disabled stroke NIH about a decade ago came to the medical center . There is no history of the disease in the family was a so NIH group did not suspect a genetic cause . A second patient with recurrent fever 2 years before her sixth birthday and 6 similar symptoms , including stroke , was . Neither patient had other issues in their families , however , 2 patients with similar symptoms and age of onset were there reviews that suggested a genetic cause .
NIH National Human Genome Research Institute , Dr. Daniel Kastner (NHGRI) led , 7 aynayyc institutes and centers, the researchers examined . Exomes these 2 patients and their parents with a third such case analyzed . Exome protein coding regions in the genome is the complete set . It 's little more than 1 per cent higher than the genome represents , exome harbors the disease due to the change . Study in New England Journal of Medicine , February 19 , 2014, published online .
Researchers from each patient 's parents both passed the gene CECR1 rare , found that harmful change . 2 additional patients with similar symptoms in the index CECR1 CECR1 confirmed as the gene . Team who had symptoms of the syndrome , 4 patients from other centers CECR1 setting. Two polyarteritis nodosa, may damage the main part of the medium and small arteries diagnosed with a form of inflammatory uaهكasuth Turkey siblings were young . UK uaهكasuth a patient without clear evidence of a mysterious affair , while another Turkish patient was diagnosed with small vessel vasculitis . All these patients were found to be harmful CECR1 edition .
ADA2, immune system function, a growth factor that plays a role in protein CECR1 considered a bad code. ADA2 activity, the researchers found significantly lower in patients . Gain insight into protein function , scientists turned in zebrafish . Defects in ADA2 point to a role in blood vessel growth, or integrity , intracranial bleeding in animals .
Growth experiments in cells from patients lacking ADA2 white blood cells called monocytes and myكruphyj interfere with the balance of the body suggested . Stroke patients and other immune system problems can cause blood vessel inflammation that is damaging , attacking their own blood vessels .
Researchers lack of ADA2 new syndrome , or DADA2 says . ADA2 poor condition of the blood can be treated . Team ADA2 use of fresh frozen plasma to restore the U.S. Food and Drug Administration to test is validated . Protein or a synthetic bone marrow transplant can help as well .
In an accompanying letter , an Israeli research group, a similar type of blood vessel inflammation in patients with reports of variants of the same gene . "We in the Middle East and the change in the population and that it is not abnormal . Likely many undiagnosed patients in this study should help to identify the " NHGRI , Dr. Ivona Aksentijevich, aynayyc study of says senior author .ADA2 also some evidence could play a role in adult-onset stroke . Read more in the way ordinary people can affect stroke risk would need to understand how .