Translational research in autoimmune Addison’s disease
- Prosjektnummer
- 911498
- Ansvarlig person
- Eystein S. Husebye
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Metabolic and Endocrine
- Forskningsaktivitet
- 2. Aetiology
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity.
Immunobiology 2013 Jun;218(6):899-909. Epub 2012 okt 26
PMID: 23182718
[In Process Citation].
Tidsskr Nor Laegeforen 2012 Oct;132(18):2043-4.
PMID: 23038193
Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency.
Eur J Endocrinol 2012 Oct;167(4):507-16. Epub 2012 jul 16
PMID: 22802425
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
J Clin Endocrinol Metab 2012 Apr;97(4):1114-24. Epub 2012 feb 16
PMID: 22344197
Radioligand-binding assay reveals distinct autoantibody preferences for type I interferons in APS I and myasthenia gravis subgroups.
J Clin Immunol 2012 Apr;32(2):230-7. Epub 2011 nov 30
PMID: 22127461
Quality of life in European patients with Addison's disease: validity of the disease-specific questionnaire AddiQoL.
J Clin Endocrinol Metab 2012 Feb;97(2):568-76. Epub 2011 nov 16
PMID: 22090270
Grapefruit juice and licorice increase cortisol availability in patients with Addison's disease.
Eur J Endocrinol 2011 Nov;165(5):761-9. Epub 2011 sep 6
PMID: 21896619
Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease.
BMC Med Genet 2011;12():111. Epub 2011 aug 18
PMID: 21851588
Multiple loci in the HLA complex are associated with Addison's disease.
J Clin Endocrinol Metab 2011 Oct;96(10):E1703-8. Epub 2011 aug 3
PMID: 21816777
High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency.
Clin Endocrinol (Oxf) 2011 Dec;75(6):753-9.
PMID: 21689130
Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome.
Eur J Endocrinol 2011 Aug;165(2):345-52. Epub 2011 mai 23
PMID: 21606191
Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins.
Scand J Immunol 2011 Sep;74(3):327-33.
PMID: 21535082
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus.
Scand J Immunol 2011 Feb;73(2):147-53.
PMID: 21198756
Cellular immunity and immunopathology in autoimmune Addison's disease.
Mol Cell Endocrinol 2011 Apr;336(1-2):180-90. Epub 2010 des 15
PMID: 21167251
Sexuality and fertility in women with Addison's disease.
J Clin Endocrinol Metab 2010 Sep;95(9):4354-60. Epub 2010 jul 7
PMID: 20610594
Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway.
Eur J Endocrinol 2010 Sep;163(3):453-9. Epub 2010 jun 15
PMID: 20551222
Phenotypic variation in a large family with autosomal dominant hypocalcaemia.
Horm Res Paediatr 2010;74(6):399-405. Epub 2010 mai 26
PMID: 20501971
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I.
Scand J Immunol 2010 Jun;71(6):459-67.
PMID: 20500699
Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis.
Immunity 2010 Apr;32(4):479-87.
PMID: 20412758
Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect.
N Engl J Med 2010 Feb;362(8):764-6.
PMID: 20181983
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines.
J Exp Med 2010 Feb;207(2):299-308. Epub 2010 feb 1
PMID: 20123959
Development of a disease-specific quality of life questionnaire in Addison's disease.
J Clin Endocrinol Metab 2010 Feb;95(2):545-51. Epub 2009 des 16
PMID: 20016050
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy.
Clin Endocrinol (Oxf) 2010 May;72(5):641-7. Epub 2009 okt 26
PMID: 19863576
Functional autoantibodies cause hypoparathyroidism.
J Clin Endocrinol Metab 2009 Dec;94(12):4655-7.
PMID: 19959750
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency.
J Clin Endocrinol Metab 2009 Dec;94(12):5117-24. Epub 2009 nov 4
PMID: 19890026
Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry.
J Clin Endocrinol Metab 2009 Dec;94(12):4882-90. Epub 2009 okt 26
PMID: 19858318
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility.
J Clin Endocrinol Metab 2009 Dec;94(12):5139-45. Epub 2009 okt 22
PMID: 19850680
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
J Clin Endocrinol Metab 2009 Oct;94(10):4086-93. Epub 2009 sep 22
PMID: 19773398
A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.
Ann Rheum Dis 2010 Aug;69(8):1471-4. Epub 2009 sep 3
PMID: 19734133
Two adults with adrenal myelolipoma and 21-hydroxylase deficiency.
Case Report Med 2009;2009():916891. Epub 2009 aug 13
PMID: 19724639
Pathogenesis of primary adrenal insufficiency.
Best Pract Res Clin Endocrinol Metab 2009 Apr;23(2):147-57.
PMID: 19500759
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I.
J Intern Med 2009 May;265(5):514-29.
PMID: 19382991
The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's disease.
J Autoimmun 2009 Aug;33(1):58-67. Epub 2009 mar 28
PMID: 19329278
Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone.
Eur J Endocrinol 2009 Jun;160(6):993-1002. Epub 2009 mar 12
PMID: 19282465
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.
Proc Natl Acad Sci U S A 2009 Mar;106(11):4396-401. Epub 2009 feb 26
PMID: 19251657
Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems.
J Comp Neurol 2009 Mar;513(1):1-20.
PMID: 19107747
Normal overall mortality rate in Addison's disease, but young patients are at risk of premature death.
Eur J Endocrinol 2009 Feb;160(2):233-7. Epub 2008 nov 14
PMID: 19011006
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.
Genes Immun 2009 Mar;10(2):120-4. Epub 2008 okt 23
PMID: 18946481
PhD
- Disputert:
- februar 2012
- Hovedveileder:
- Eystein Husebye
PhD
- Disputert:
- februar 2012
- Hovedveileder:
- Dag Undlien
Addison’s disease in Norway
- Disputert:
- juni 2010
- Hovedveileder:
- Eystein Husebye
Molekylærgenetiske og immunologiske aspekter av autoimmun Addisons sykdom og autoimmunt polyendokrint syndrom type I
- Disputert:
- mars 2010
- Hovedveileder:
- Eystein Husebye/Per Knappskog
PdD
- Disputert:
- september 2009
- Hovedveileder:
- Eystein Husebye
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
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