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Wednesday, March 29, 2017

Doctors have discovered a rare but dangerous childhood disease


Experts from the UK, US and Turkey announced that they had discovered a previously unknown autoimmune disease. A disease called tulipane declared rare, but potentially deadly. First and foremost it is threatening to young children, say doctors. Experts have also developed therapies that mitigate some of the symptoms of the disease.


photo: pixabay.com

Tulipane, according to the researchers, occurs because of disorders in the gene OTULIN. It is located in the fifth chromosome, and in a healthy organism is involved in the regulation of immune function and development of blood vessels.

When OTULIN gene works properly, it makes certain cells and proteins “activated”, and to resist infection. However, if the gene is not working properly, it leads to the development of serious inflammatory diseases, causes children fever, skin rash, diarrhea, and pain in the joints, and in General impede their healthy growth and development. As in the case of other diseases of this kind, a mutation in the gene OTULIN causes the immune system to attack tissues that make up the human body, thereby causing the body to fight “with yourself”.

According to a press release issued by the National institutes of health, USA, to detect new disease managed during the observation of four children from Pakistan and Turkey, each of which, as it turned out, was attended by certain mutations in both copies of the gene OTULIN.

Although drugs that are directed not treatment tulipani does not exist, experts say that its symptoms can be quite effectively removed with medications used in other autoimmune diseases.

Research article on the study, published in the journal Proceedings of the National Academy of Sciences.

source

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