Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: Clinical, immunological and genetic patterns

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 hypoparathyroi...

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Bibliographic Details
Published in:Journal of endocrinological investigation 2012-11, Vol.35 (10), p.877-881
Main Authors: Betterle, C., Ghizzoni, L., Cassio, A., Baronio, F., Cervato, S., Garelli, S., Barbi, E., Tonini, G.
Format: Article
Language:English
Subjects:
Adolescent
Adult
AIRE Protein
Autoantibodies - blood
Autoantibodies - immunology
Child
Endocrinology
Female
Genetic Association Studies
Heterozygote
Homozygote
Humans
Italy - epidemiology
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Mutation - genetics
Original Article
Polyendocrinopathies, Autoimmune - epidemiology
Polyendocrinopathies, Autoimmune - genetics
Polyendocrinopathies, Autoimmune - immunology
Prognosis
Sicily
Transcription Factors - genetics
Young Adult
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Summary: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 and methods: 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.
ISSN:0391-4097
1720-8386
DOI:10.3275/8109