Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.
J Endocrinol Invest
; 35(10): 877-81, 2012 Nov.
Article
em En
| MEDLINE
| ID: mdl-22104652
ABSTRACT
UNLABELLED Autoimmune polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two of three major clinical features chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. DESIGN:
In this study, we analyzed Autoimmune Regulator (AIRE) gene mutations and genotype-phenotype correlation in APECED patients originating from Calabria, a region in the south of Italy. PATIENTS ANDMETHODS:
Four patients and their first-degree relatives were evaluated for clinical manifestations, autoantibody presence and AIRE gene mutations.RESULTS:
Three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily. Clinical disease expression showed wide variability. Analysis of relatives allowed the identification of 6 heterozygotes, none of whom showed major findings of APECED.CONCLUSIONS:
No AIRE gene mutations specific to Calabria were found in patients with APS-1, but mutations similar to those in patients from Apulia and Sicily. Heterozygosity for AIRE gene mutation is not associated with major findings of APECED.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoanticorpos
/
Fatores de Transcrição
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Poliendocrinopatias Autoimunes
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Endocrinol Invest
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Itália