Publications from Endocrine Medicine

Milestone papers:

A selection of the most important papers published in the research group

Adrenal insufficiency - Husebye E et al. The Lancet, 2021 Feb 13;397(10274):613-629

An invited review for The Lancet concering the diagnostication and treatment of Addison.

Autoimmune Polyendocrine Syndromes - Husebye et al. N Engl J Med 2018; 378:1132-1141

An encompassing review on autoimmune polyendocrine diseases published in a world leading medical journal

GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility - Eriksson D, Røyrvik E et al. Nature Communications 12, Article number: 959 (2021)

The first genome wide gene assoication study on Addison disease. A collaborative project between University of Bergen and Karolinska Institutet (Sweden), joining patient material from the resepective patient registries. The study found a number of genes linked to the development of Addison, where several of them were linked to the development of the immune system.

Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. - Oftedal BE et al. Immunity. 2015 Jun 16;42(6):1185-96

Autoimmune regulator (AIRE) has an essential role in the development of T-cells. If you inherit one mutation from each parent, you develop the serious autoimmune disease APS-1. In this paper a new type of APS-1 is described, which only requires one AIRE mutation in specific parts of the gene. This monogenic APS-1 is less severe than the traditional syndrome and is often characterized by vitiligo and pernicious anemia. This paper demonstrates a direct link between hereditary and more common autoimmune diseases and that mutations in AIRE is more important as an underlying cause of autoimmunity that previously believed.

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. - Oftedal BE et al. Clin Immunol. 2008 Oct; 129 (1); 163-9.

In this paper Oftedal et al. developed a new diagnostic tool for autoimmune polyendocrine syndrom 1 (APS-1), an assay that detects autoantibodies against interferon omega, a specifc APS-1 marker. This assay, along with two other autoantibody assays are performed by the Endocrine Medicinegroup through the hormonlaboratory at Haukeland hospital.

T cell responses to steroid cytochrome P450 21-hydroxylase in patients with primary adrenal insufficiency. Bratland, E. et al. J Clin Endocrinol Metabol 2009 94(12):5117-24.

The first study showing T cell responses against 21OH in patients with autoimmune Addison’s disease.

Peripheral Blood Cells from Patients with Autoimmune Addison's Disease Poorly Respond to Interferons In Vitro, Despite Elevated Serum Levels of Interferon-Inducible Chemokines. Edvardsen, K. et al. J Interferon Cytokine Res. 2015 35(10):759-70.

The first study showing impaired innate immunity in patients with autoimmune Addison’s disease and a possible link between this impairment and genetic variants of the gene encoding PTPN22.

The effect of types I and III interferons on adrenocortical cells and its possible implications for autoimmune Addison's disease. Hellesen, A. et al. Clin Exp Immunol 2014 176(3): 351-362.

A study demonstrating as a proof of principle how cells of the adrenal cortex may contribute to their own demise in autoimmune Addison’s disease. One of the illustrations in the article was chosen for the front page of the journal issue.

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. Bruserud Ø et al. J Clin Endocrinol Metab. 101, 2975-83, 2016.

This article describes the clinics, autoantibody profiles and mutations in the AIRE gene of one of the worlds largest cohorts of patients with the autoimmune polyendocrine syndrome. In specific, it highlights the clinical variances between patients and points to mutations in AIRE that might confer milder phenotypes.

AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies. Meyer S et al. Cell 166, 582-95, 2016.

This article highlights the number of antibodies that is evident in patients with autoimmune polyendocrine syndrme type I and suggests a novel role for autoantibodies against interferons that might proect against type 1 diabetes.

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. Meager A et al. Plos Med Jul,3(7)3, e289.

This is the first worldwide report on interferon antibodies in autoimmune polyendocrine syndrome type 1.

Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. Erichsen MM et al. J Clin Endocrinol Metab. 2009 Dec;94(12):4882-90.

This is an in depth characterisation of features of patients with autoimmune Addison’s disease in Norway, one of the worlds largest and best characterised cohorts.

Multiple loci in the HLA complex are associated with Addison's disease. Skinningsrud B et al. J Clin Endocrinol Metab.

This is the first in depth analyses of HLA’s contribution to risk for Addison’s disease.

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. Wolff AB and Kisand K et al. J Exp Med. 2010 Feb 15;207(2):299-308.

We here reported for the first time antibodies against IL17F, IL17F and IL22 correlating to mucocutaneous candidiasis in patients with autoimmune polyendocrine syndrome type I (APS-I). This article changed views on why patients with APS-I are prone to fungal infections.

Publications from Endocrine Medicine

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