Research Topics
Genomes and Genes | Eystein S HusebyeSummaryAffiliation: Haukeland University Hospital Country: Norway Publications
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Publications
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigenMohammad Alimohammadi
University Hospital, Uppsala University, Uppsala, Sweden
N Engl J Med 358:1018-28. 2008....
[Hereditary endocrine tumour diseases]Eystein S Husebye
Endokrinologisk seksjon, Medisinsk avdeling, Haukeland Universitetssjukehus, 5021 Bergen
Tidsskr Nor Laegeforen 125:2964-7. 2005..Family members who are not carriers can be excluded from follow up. DNA analyses of the most common disease genes are now performed in genetic laboratories in Norway...
Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesisEystein S Husebye
Institute of Medicine, University of Bergen, Haukeland University Hospital, 5021 Bergen, Norway
Immunity 32:479-87. 2010..Here, we highlight the APS disorders with the perspective of the clues they can offer to the pathogenesis and treatment of type 1 diabetes...- Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registryMartina M Erichsen
Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
J Clin Endocrinol Metab 94:4882-90. 2009..We aimed to determine the clinical, immunological, and genetic features of a national registry-based cohort... - T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiencyEirik Bratland
Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
J Clin Endocrinol Metab 94:5117-24. 2009..Autoantibodies against the steroidogenic cytochrome P450 enzyme 21-hydroxylase (21OH) are found in most patients, and 21OH is therefore a likely target for antigen-specific T cells... - Normal overall mortality rate in Addison's disease, but young patients are at risk of premature deathMartina M Erichsen
Section for Endocrinology, Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Eur J Endocrinol 160:233-7. 2009..Primary adrenal insufficiency (Addison's disease) is a rare autoimmune disease. Until recently, life expectancy in Addison's disease patients was considered normal... - Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type IBergithe E Oftedal
Section of Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway
Clin Immunol 129:163-9. 2008..It provides an alternative, sensitive and specific diagnostic test for APS I, and an ideal screening tool to precede mutational analyses of the AIRE gene in suspected APS I cases... - Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator geneAnette S B Wolff
Institute of Medicine, University of Bergen, Bergen, Norway
J Clin Endocrinol Metab 92:595-603. 2007..Autoantibody screening as well as mutational analysis of the disease gene autoimmune regulator (AIRE) are important diagnostic tools for this life-threatening syndrome... - The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's diseaseEirik Bratland
Department of Medicine, Section for Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway
J Autoimmun 33:58-67. 2009..We conclude that the recombinant preparation of 21OH presented here is of sufficient purity and quality to be used for studies of cellular and humoral immunity in autoimmune Addison's disease... - Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's diseaseNg weina F Magitta
Institute for Clinical Medicine, University of Bergen, N 5021 Bergen, Norway
Eur J Endocrinol 158:705-9. 2008..There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge... - Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on boneKristian Løvås
Institute of Medicine, University of Bergen, 5020 Bergen, Norway Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway
Eur J Endocrinol 160:993-1002. 2009..Context Patients with primary adrenal insufficiency (Addison's disease) receive more glucococorticoids than the normal endogenous production, raising concern about adverse effects on bone... - Radioligand-binding assay reveals distinct autoantibody preferences for type I interferons in APS I and myasthenia gravis subgroupsLiv Hapnes
Institute of Medicine, University of Bergen, 5021 Bergen, Norway
J Clin Immunol 32:230-7. 2012..The exact profile of type I interferon antibodies may indicate MG subtype and may hint at thymoma recurrence... - Genome-wide copy number variation (CNV) in patients with autoimmune Addison's diseaseIngeborg Brønstad
Institute of Medicine, University of Bergen, 5021 Bergen, Norway
BMC Med Genet 12:111. 2011..The aim of the present study was to investigate if gene dosage in the form of copy number variation (CNV) could add to the repertoire of genetic susceptibility to autoimmune AD... - Epitope mapping of human aromatic L-amino acid decarboxylaseEirik Bratland
Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Biochem Biophys Res Commun 353:692-8. 2007..Replacement of amino acids 227-230 (ERDK) with alanine residues reduced the reactivity towards AADC by >80% in all patient sera tested, suggesting that amino acids 227-230 are an important part of an immunodominant epitope... - Replacement therapy for Addison's disease: recent developmentsKristian Løvås
University of Bergen, Institute of Medicine, Section of Endocrinology, 5021 Bergen, Norway
Expert Opin Investig Drugs 17:497-509. 2008..Despite such treatment these patients self-report impaired health-related quality of life (HRQoL) and recent research has indicated increased mortality... - Sexuality and fertility in women with Addison's diseaseMartina M Erichsen
Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
J Clin Endocrinol Metab 95:4354-60. 2010..Females with primary adrenal insufficiency (Addison's disease) have reduced levels of circulating androgens, which are allegedly important for sexual functioning... - Continuous subcutaneous hydrocortisone infusion in Addison's diseaseKristian Løvås
Division of Endocrinology, Institute of Medicine, University of Bergen, Norway
Eur J Endocrinol 157:109-12. 2007..We explored the feasibility and safety of continuous s.c. hydrocortisone infusion (CSHI) as a novel mode of glucocorticoid replacement therapy... - Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1Anette S Bøe
Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N 5021, Bergen, Norway
Eur J Endocrinol 150:49-56. 2004.... - [Primary adrenal failure--causes, diagnostics and therapy]Kristian Løvås
Institutt for indremedisin, Universitetet i Bergen, Medisinsk avdeling Haukeland Universitetssykehus
Tidsskr Nor Laegeforen 125:155-8. 2005..2 mg in one dose per day. Treatment with 20 - 50 mg dehydroepiandrosterone has been studied in adrenal failure, but the evidence for positive effects is weak, and it can not be recommended as standard treatment in primary adrenal failure... - [Fooled by the diurnal rhythm]Kristian Løvås
Medisinsk avdeling, Haukeland Universitetssykehus, Bergen
Tidsskr Nor Laegeforen 123:1858-9. 2003..It is important to understand the variation in cortisol secretion when analysing results of cortisol tests... - [Salivary cortisol in adrenal diseases]Kristian Løvås
Institutt for indremedisin, Universitetet i Bergen
Tidsskr Nor Laegeforen 127:730-2. 2007..Salivary cortisol reflects the free and biologically active fraction of cortisol in serum. We evaluated the usefulness of salivary cortisol measurements in the assessment of Cushing's syndrome and adrenal insufficiency... - Induction of CXCL10 chemokine in adrenocortical cells by stimulation through toll-like receptor 3Eirik Bratland
Section for Endocrinology, Institute of Medicine, University of Bergen, N 5020 Bergen, Norway
Mol Cell Endocrinol 365:75-83. 2013..We propose that the combination of environmental and endogenous factors presented here, could contribute to the multifactorial pathogenesis of autoimmune Addison's disease... - Addison's diseaseKristian Løvås
Haukeland University Hospital, and University of Bergen, Bergen, Norway
Lancet 365:2058-61. 2005 - Replacement of dehydroepiandrosterone in adrenal failure: no benefit for subjective health status and sexuality in a 9-month, randomized, parallel group clinical trialKristian Løvås
Haukeland University Hospital, N 5021 Bergen, Norway
J Clin Endocrinol Metab 88:1112-8. 2003..Premenopausal androgen levels can be restored with 25 mg DHEA daily in most female patients, but side-effects are frequent... - Sleep disturbances in patients with Addison's diseaseKristian Løvås
Institute of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Eur J Endocrinol 148:449-56. 2003..The aim of the study was to describe the prevalence and characteristics of sleep disturbances in patients with Addison's disease... - Cellular immunity and immunopathology in autoimmune Addison's diseaseEirik Bratland
Department of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Mol Cell Endocrinol 336:180-90. 2011..The aim of the present review is to summarize the current knowledge on the role of T cells and cellular immunity in the pathogenesis of autoimmune Addison's disease... - High prevalence and increasing incidence of Addison's disease in western NorwayKristian Løvås
Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway
Clin Endocrinol (Oxf) 56:787-91. 2002..We have carried out an epidemiological study to obtain a confident point prevalence estimate in the Norwegian population for the end of 1999, and to find out whether the incidence is changing... - Development of a disease-specific quality of life questionnaire in Addison's diseaseKristian Løvås
Institute of Medicine, Haukeland University Hospital, 5021 Bergen, Norway
J Clin Endocrinol Metab 95:545-51. 2010..Conclusions: We envisage AddiQoL having utility in trials of hormone replacement and management of patients with Addison's disease, analogous to similar questionnaires in GH deficiency (AGHDA) and acromegaly (AcroQoL)... - Quality of life in European patients with Addison's disease: validity of the disease-specific questionnaire AddiQoLMarianne Øksnes
Institute of Medicine, Haukeland University Hospital, Jonas Liesvei 65, N 5021 Bergen, Norway
J Clin Endocrinol Metab 97:568-76. 2012..Patients with Addison's disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD-specific quality-of-life questionnaire (AddiQoL) was developed to aid evaluation of patients... - Immunology of Addison's disease and premature ovarian failureEystein S Husebye
Section of Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway
Endocrinol Metab Clin North Am 38:389-405, ix. 2009..Little is known about its immunogenetics, but in contrast to Addison's disease, several experimental models of autoimmune premature ovarian insufficiency are available for study... - Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomasMads Aarhus
Section for Neurosurgery, Department of Surgical Sciences, University of Bergen, Bergen, Norway
J Neurooncol 88:251-9. 2008..Since meningiomas derive from arachnoid cap cells, we used samples from four patients operated for arachnoid cysts as control tissue... - Subjective health status in Norwegian patients with Addison's diseaseKristian Løvås
Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Clin Endocrinol (Oxf) 56:581-8. 2002..The subjective health status in Addison's disease was compared with normative data from the general population... - Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type IAnette S Bøe
Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
Eur J Endocrinol 146:519-22. 2002..To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I)... - Replacement therapy in Addison's diseaseKristian Løvås
Expert Opin Pharmacother 4:2145-9. 2003..The mineralocorticoid depletion should be treated with fludrocortisone 0.05-2.0 mg/day [DOSAGE ERROR CORRECTED]. Replacement of dehydroepiandrosterone 20-50 mg has been advocated in adrenal failure, but the evidence for benefit is weak... - Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiencyBeate Skinningsrud
Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Kirkeveien 166, N 0407 Oslo, Norway
J Clin Endocrinol Metab 93:3310-7. 2008..In this study we aimed to investigate if loci found associated with common autoimmune diseases in recent genome-wide association studies also could be susceptibility loci for autoimmune Addison's disease (primary adrenal insufficiency)... - Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cellsFilip Sköldberg
Department of Medical Sciences, Uppsala University, University Hospital, 751 85 Uppsala, Sweden
J Clin Endocrinol Metab 88:1445-52. 2003..To our knowledge, this is the first report of autoantibodies against histidine decarboxylase and absence of gastric enterochromaffin-like cells... - CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseasesAnne Blomhoff
Institute and Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Oslo, Norway
Pigment Cell Res 18:55-8. 2005..This raises the possibility that there are two distinct forms of vitiligo where only a subgroup of patients may have a disease caused by the autoimmune destruction of melanocytes... - Mutation screening of PTPN22: association of the 1858T-allele with Addison's diseaseBeate Skinningsrud
Institute of Medical Genetics, University of Oslo, Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway
Eur J Hum Genet 16:977-82. 2008..In conclusion, the 1858T-allele is a PTPN22 genetic susceptibility factor for autoimmune AD. Other rare variants in PTPN22 do occur, and may also be involved in the pathogenesis... - Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical featuresAnne Grethe Myhre
Department of Pediatrics, Akershus Central Hospital, N 1474 Nordbyhagen, Norway
J Clin Endocrinol Metab 87:618-23. 2002..Addison's disease is associated with the DR3-DQ2 and DR4 (0404)-DQ8 haplotypes. A particularly high risk for disease development is observed when these occur in a heterozygous combination (DR3-DQ2/DR4-DQ8)... - The substrate-binding domain of 21-hydroxylase, the main autoantigen in autoimmune Addison's disease, is an immunodominant T cell epitopeEystein S Husebye
Department of Immunology, The Weizmann Institute of Science, Rehovot, Israel
Endocrinology 147:2411-6. 2006..21OH (342-361) corresponds to the substrate binding site of the enzyme. The p342-361 region may be involved in the pathogenesis of autoimmune adrenal failure in humans... - Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genesKai Kisand
Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia
Blood 112:2657-66. 2008..Our results argue that the breakdown of tolerance to IFNs in AIRE deficiency is associated with impaired responses to them in thymus, and highlight APECED as another autoimmune disease with associated dysregulation of IFN activity... - AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotypeMaria Halonen
Department of Molecular Medicine, National Public Health Institute, Biomedicum, Haartmaninkatu 8, FIN 00290 Helsinki, Finland
J Clin Endocrinol Metab 87:2568-74. 2002..We conclude that mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant... - Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1Sophie Bensing
Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
Proc Natl Acad Sci U S A 104:949-54. 2007..Thus, we have identified TDRD6 as a major autoantigen in APS1 patients and shown that several sera from GH-deficient patients stain specific cell populations and nerves in the pituitary gland... - Analysis of antibody reactivity against cysteine sulfinic acid decarboxylase, a pyridoxal phosphate-dependent enzyme, in endocrine autoimmune diseaseFilip Sköldberg
Department of Medical Sciences, Uppsala University, University Hospital, 751 85 Uppsala, Sweden
J Clin Endocrinol Metab 89:1636-40. 2004..Moreover, CSAD may be a useful mold for the construction of recombinant chimerical antigens in attempts to map conformational epitopes on other group II PLP-dependent amino acid decarboxylases... - Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type IAnnika Söderbergh
Department of Medical Sciences, University Hospital, SE 751 85 Uppsala, Sweden
J Clin Endocrinol Metab 89:557-62. 2004..Analysis of autoantibodies in autoimmune polyendocrine syndrome type I patients is a useful tool for establishing autoimmune manifestations of the disease as well as providing diagnosis in patients with suspected disease...