-This research uses the rare monogenic disease autoimmune polyendocrine syndrome type 1 (APS-I) as a model to understand the immune system and autoimmunity, says Anette. The research node works with several projects, among others:

* The characterization of clinic and immunology in APS-I patients. This includes both characterizing “new manifestations,” and finding causes for these, for example reduced salivary gland and spleen function.

* Finding the causes of chronic fungal infections in patients.

* Finding correlations between mutations and disease manifestations and the course of the disease

* What is the significance of the AIRE gene in immunological tolerance? In these studies zebrafish are used as model systems, among others.

The project group

A large group of researchers and students work with these projects. Research leader Eystein Husebye, postdoc Bergithe Oftedal and chief doctor Martina Moter Erichsen are together with Professor Per Knappskog at the section for medical genetics and molecular medicine all active within this node. In addition, the node cooperates both within and across institute boundaries at the University of Bergen; with the Department of Clinical Medicine and Professor Nils-Erik Gilhus, (an expert in myasthenia gravis) and Roland Jonsson (expert in Sjogrens syndrome). The last few years both masters students and PhD candidates graduated with some connection to these projects.

On a national level Wolff and Husebye’s research group cooperates with endocrinologists all across the country, as well as with the Institute of Medical Genetics at the University in Oslo. Both professor Husebye and researcher Anette Wolff have built a significant international network of research partners within their field. This includes Professor Olle Kämpe at Uppsala University; Dr. Jakub Abramson at the Weizmann Institute of Science; Professor Mark Anderson at UCSF; Professor Nick Willcox at the University of Oxford; Professor Pært Peterson and researcher Kai Kisand at the University of Tartu; Professor Laszlo Marodi at the University of Debrecen and the commercial company Immunoqure in Switzerland. Anette Wolff has also developed a vast international network within APS-I research due to her involvement in EurAPS. EurAPS was a large EU supported project with the goal of finding the mechanisms behind, as well as more effective treatment methods for patients with APS-I.

Many articles

The goal of the newly published article is to find out how early manifestations and autoantibodies act in young patients with APS-I, a disease caused by mutations in the AIRE gene. The hypothesis has been that this can give more insight into autoimmunization processes in these patients. In the study clinical information was collected from 13 APS-I patients in which there were serum samples from before the patients were 7 years old. The patients are first and foremost from Europe. In addition, the researchers obtained samples from three presymptomatic siblings with AIRE mutations. They found that cytokine antibodies generally appear very early. In 12 out of 13 patients IFN-omega and IL-22 antibodies were found even in the first samples taken. Endocrine antibodies generally appeared later, although there were exceptions.

The article now published is the first that characterizes APS-I clinic and serology in young patients. – Of particular interest is the fact that we in the study also have three siblings who at first showed no symptoms of autoimmunity. Two of the three children have developed the disease, while the third – who is now 5 years old – is still symptom free. The very early and specific development of antibodies as well as the early appearance of manifestations points to focused early events in the autoimmunity process, she says. In total, Anette Wolff has published around 30 articles in this field, most in so called “high impact” journals, that is highly prestigious journals.