Eur J Endocrinol
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

DOI: 10.1530/eje.0.1460519
European Journal of Endocrinology, Vol 146, Issue 4, 519-522
Copyright © 2002 by European Society of Endocrinology
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Boe, A.
Right arrow Articles by Husebye, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Boe, A.
Right arrow Articles by Husebye, E.
Articles

Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I

AS Boe, PM Knappskog, AG Myhre, JI Sorheim, and ES Husebye

Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway. Anette.Boe@med.uib.no

OBJECTIVE: To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS: Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegian autoimmune regulator (AIRE) gene mutations. RESULTS: A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway. CONCLUSIONS: APS I patients with milder and atypical phenotypes are difficult to diagnose on clinical grounds. Autoantibody analysis and mutational analysis of AIRE may therefore be helpful modalities for identifying these individuals.


This article has been cited by other articles:


Home page
 Eur J EndocrinolHome page
N. F. Magitta, M. Pura, A. S Boe Wolff, P. Vanuga, A. Meager, P. M Knappskog, and E. S Husebye
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease
Eur. J. Endocrinol., May 1, 2008; 158(5): 705 - 709.
[Abstract] [Full Text] [PDF]

Home page
 J. Immunol.Home page
Q.-G. Ruan, K. Tung, D. Eisenman, Y. Setiady, S. Eckenrode, B. Yi, S. Purohit, W.-P. Zheng, Y. Zhang, L. Peltonen, et al.
The Autoimmune Regulator Directly Controls the Expression of Genes Critical for Thymic Epithelial Function
J. Immunol., June 1, 2007; 178(11): 7173 - 7180.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. S. B. Wolff, M. M. Erichsen, A. Meager, N. F. Magitta, A. G. Myhre, J. Bollerslev, K. J. Fougner, K. Lima, P. M. Knappskog, and E. S. Husebye
Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene
J. Clin. Endocrinol. Metab., February 1, 2007; 92(2): 595 - 603.
[Abstract] [Full Text] [PDF]

Home page
 J. Exp. Med.Home page
W. Jiang, M. S. Anderson, R. Bronson, D. Mathis, and C. Benoist
Modifier loci condition autoimmunity provoked by Aire deficiency
J. Exp. Med., September 19, 2005; 202(6): 805 - 815.
[Abstract] [Full Text] [PDF]

Home page
 J. Exp. Med.Home page
A. Liston, D. H.D. Gray, S. Lesage, A. L. Fletcher, J. Wilson, K. E. Webster, H. S. Scott, R. L. Boyd, L. Peltonen, and C. C. Goodnow
Gene Dosage-limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity
J. Exp. Med., October 18, 2004; 200(8): 1015 - 1026.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
M. Dittmar and G. J. Kahaly
Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up
J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 2983 - 2992.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
F. Buzi, R. Badolato, C. Mazza, S. Giliani, L. D. Notarangelo, G. Radetti, A. Plebani, and L. D. Notarangelo
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome: Time to Review Diagnostic Criteria?
J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 3146 - 3148.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 European Society of Endocrinology.