Discovered a new genetic disease

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Обнаружено новое генетическое заболеваниеThe researchers were able to identify a genetic variant violations.

Scientists from the Australian national University (ANU) declared the existence of a genetic disease that is not diagnosed
medicine. Many of suffering from this disease people live with him for nearly 20 years, cites the opinion of experts in Еurekalert.

Summarizing a five-year study, a team of scientists led by Professor Matthew cook reported the existence of a new disease characterized by immunodeficiency. On one hand there are suffering people there is weakness of the immune system, on the other hand, the excessive reaction of immune cells to infection.

“Patients have recurrent infections, especially infections of the chest, including recurrent pneumonia, and suffer from inflammatory diseases of the skin, lymph nodes and spleen,” – said the authors of a research project.

Australian researchers were able to identify a genetic variant disorders associated with the development of a mysterious disease. In parallel, Japanese scientists also investigated the mechanisms of emergence of this disease. Have observed their patients were similar clinical picture, and the results of genetic analysis get close to the Australian team.

Research in this direction will continue.

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