Autoimmune polyendocrine syndrome type 1 (APS I) in Norway

Clinical Endocrinology

Volumn 54, Issue 2, 2001, Pages 211-217

  Myhre, Anne Grethe ^a,b   Halonen, Maria ^c,d   Eskelin, Petra ^c,d   Ekwall, Olov ^e   Hedstrand, Håkan ^e   Rorsman, Fredrik ^e   Kämpe, Olle ^e   Husebye, Eystein S ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF HELSINKI   (Finland)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC LEVO AMINO ACID DECARBOXYLASE; AUTOANTIBODY; AUTOANTIGEN; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); STEROID 21 MONOOXYGENASE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANDIDIASIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ENDOCRINE DISEASE; FEMALE; FINLAND; GENE CONTROL; GENE MUTATION; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; MALE; MEDICAL RECORD; NORWAY; NUCLEOTIDE SEQUENCE; OVARY DISEASE; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; RADIOIMMUNOASSAY; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AROMATIC-L-AMINO-ACID DECARBOXYLASES; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; COHORT STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; NORWAY; OVARIAN FAILURE, PREMATURE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PREVALENCE; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE; TRANSCRIPTION FACTORS;

EID: 0035123883     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2001.01201.x     Document Type: Article

References (29)

1. Clinical variation of autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED) in a series of 68 patients
2. Autoimmune polyglandular syndrome type 1
3. Adrenal-cortex autoantibodies and steroidproducing cells autoantibodies in patients with Addison's disease: Comparison of immunofluorescence and immunoprecipitation assays
4. GAD autoantibodies in IDDM, stiff-man syndrome, and autoimmune polyendocrine syndrome type I recognize different epitopes
5. Genetic homogeneity of autoimmune polyglandular disease type I
6. Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy protein
7. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome. Addison's disease, and premature ovarian failure
8. Identification of tryptophan hydroxylase as an intestinal autoantigen
9. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
10. Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I
11. Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I
12. Mutation analyses of North American APS-1 patients
13. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
14. Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase
15. Three sisters with Addison's disease
16. Positional cloning of the APECED gene
17. Autoimmune polyglandular syndromes
18. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
19. Aromatic-L-amino-acid decarboxylase, a pyridoxal phosphate-dependent enzyme, is a beta-cell autoantigen
20. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
21. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
22. Blot hybridisation analysis of genomic DNA
23. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
24. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressire therapy
25. Convenient single-step, one tube purification of PCR products for direct sequencing
26. Is premature ovarian failure an autoimmune disease?
27. Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease
28. 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease
29. Polyglandular autoimmune syndrome type I among Iranian Jews