AIRE-mutations and autoimmune disease

Ø Bruserud, BE Oftedal, AB Wolff… - Current opinion in …, 2016 - Elsevier
Highlights • Autoimmune regulator (AIRE) plays a key role in development of central
immunological tolerance. • Biallelic mutations cause organ-specific autoimmunity with chronic …

[PDF][PDF] Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases

BE Oftedal, A Hellesen, MM Erichsen, E Bratland… - Immunity, 2015 - cell.com
The autoimmune regulator (AIRE) gene is crucial for establishing central immunological
tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive …

A longitudinal follow-up of autoimmune polyendocrine syndrome type 1

Ø Bruserud, BE Oftedal, N Landegren… - The Journal of …, 2016 - academic.oup.com
Oftedal , … OftedalOftedal, Nils Landegren, Martina M. Erichsen, Eirik Bratland, Kari
Lima, Anders P. Jørgensen, Anne G. …

Extrathymic expression of Aire controls the induction of effective TH17 cell-mediated immune response to Candida albicans

…, A Binyamin, L Stoler-Barak, BE Oftedal… - Nature …, 2022 - nature.com
Patients with loss of function in the gene encoding the master regulator of central tolerance
AIRE suffer from a devastating disorder called autoimmune polyendocrine syndrome type 1 (…

Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1

…, LS Sozaeva, MA Kareva, BE Oftedal… - The Journal of …, 2017 - academic.oup.com
Context Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic
autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and …

ARMC5 Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia

…, T Cranston, H Boon, C Hotu, BE Oftedal… - The Journal of …, 2014 - academic.oup.com
Context: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of adrenal Cushing's
syndrome. Familial cases have been reported, but at the time we conducted this study, …

[HTML][HTML] GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

…, S Ström, E Bratland, IR Botusan, BE Oftedal… - Nature …, 2021 - nature.com
Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of
the adrenal cortex. Low prevalence and complex inheritance have long hindered successful …

[HTML][HTML] Autoimmune primary adrenal insufficiency-current diagnostic approaches and future perspectives

ASB Wolff, I Kucuka, BE Oftedal - Frontiers in Endocrinology, 2023 - frontiersin.org
The adrenal glands are small endocrine glands located on top of each kidney, producing
hormones regulating important functions in our body like metabolism and stress. There are …

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

BE Oftedal, ASB Wolff, E Bratland, O Kämpe… - Clinical …, 2008 - Elsevier
Patients with the autoimmune polyendocrine syndrome I (APS I) have high titers of neutralizing
IgG autoantibodies against type I interferons (IFNs), in particular IFN-ω. Until now, the …

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

BE Oftedal, AH Berger, Ø Bruserud… - Journal of Clinical …, 2023 - Am Soc Clin Investig
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the
autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous …