NIH researchers ID a new rare, inflammatory disease : fiercebiotech

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NIH researchers ID a new rare, inflammatory disease

NIH researchers ID a new rare, inflammatory disease

National Institutes of Health scientists have discovered a rare, deadly inflammatory disease among young children, known as otulipenia.It's caused by the malfunction of OTULIN, a gene on chromosome 5 that regulates the development of new blood vessels and the mobilization of infection-fighting cells and proteins.Researchers identified four children from Pakistani and Turkish families with the disease, which is characterized by a problem processing the small protein ubiquitin and is accompanied by inflammation that leads to skin rashes and inflamed joints.Once the children were identified, the NIH scientists used next-gen DNA sequencing to search for disease-causing genes, which is how they found the abnormal OTULIN gene.


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NIH researchers discover otulipenia, a new inflammatory disease

NIH researchers discover otulipenia, a new inflammatory disease

National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease — otulipenia — that primarily affects young children.They have also identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive.Otulipenia is caused by the malfunction of OTULIN, a single gene on chromosome 5.When functioning properly, OTULIN regulates the development of new blood vessels and mobilization of cells and proteins to fight infection.


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