Faculty of Medicine

Researchers from Bergen discover new autoimmune disease

Researchers at the University of Bergen (UiB) have discovered that a rare autoimmune disease called APS1 may be more common than previously believed. The disease can lead to diabetes, hair loss, loss of pigments, dental problems and a number of other problems, especially in the internal organs.

he resarch group: Professor Eystein Sverre Husebye (to the left) together with molecularbiologists Bergithe Eikeland Oftedal and Aleksander Hellesen.
The resarch group: Professor Eystein Sverre Husebye together with molecularbiologists Bergithe Eikeland Oftedal and Aleksander Hellesen (left to right), have discovered several genetic errors explaining why some families accumulate autoimmune diseases.
Anne Sidsel Herdlevær, UiB

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APS1 is hereditary and usually occurs during childhood. About 1 out of 80,000 Norwegians are affected by the disease, but there is probably a large number of unrecorded cases. This is shown in the study lead by Professor of Endocrinology Eystein S. Husebye at the Department of Clinical Science, UiB. The disease is caused by mutations in an important autoimmune regulator gene, known as AIRE. On 16 June 2015, the results were published in the journal Immunity. The UiB researchers collaborated with colleagues in Israel, Finland and the UK.

The findings show that APS1 may also occur in adults, but with more diffuse symptoms. It is probable that many patients have been misdiagnosed with other autoimmune diseases, whereas they in reality have APS 1.

“The new findings could be important to make the right diagnosis and treatment in the future. Doctors should be aware that symptoms misinterpreted as other diseases may actually be a type of APS 1. It could be beneficial to screen the patients for mutations in the AIRE gene more often, to get the right diagnosis quickly in place,” says Husebye.


For more information, please contact:

Professor Eystein S. Husebye:  e-mail: eystein.husebye@uib.no / mobile: +47 994 04 788

Communications adviser Marion Solheim: e-mail: marion.solheim@uib.no / mobile: +47 991 52 821