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Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic
C Betterle1, L Ghizzoni, A Cassio
1Endocrine Unit, Department of Medicine, University of Padova, Padova, Italy. corrado.betterle@unipd.it
Journal of Endocrinological Investigation
|November 23, 2011
Summary
Autoimmune polyendocrine syndrome type 1 (APS-1) patients in Calabria share AIRE gene mutations with those from other Italian regions. Heterozygosity for AIRE mutations does not cause major APS-1 symptoms.
Area of Science:
- Genetics
- Immunology
- Endocrinology
Background:
- Autoimmune polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED), or autoimmune polyendocrine syndrome type 1 (APS-1), is a rare autoimmune disorder.
- Diagnosis involves at least two of three key features: chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease.
Observation:
- This study investigated Autoimmune Regulator (AIRE) gene mutations and genotype-phenotype correlations in APS-1 patients from Calabria, Southern Italy.
- Four patients and their relatives were assessed for clinical signs, autoantibodies, and AIRE gene mutations.
Findings:
- Three patients had the W78R mutation (common in Apulia), and one had the R203X mutation (common in Sicily).
- No Calabria-specific AIRE mutations were identified; disease expression varied widely.
- Six heterozygotes were identified among relatives, none exhibiting major APS-1 features.
Implications:
- AIRE gene mutations in Calabrian APS-1 patients resemble those found in other Italian populations.
- AIRE gene heterozygosity does not appear to be associated with significant APS-1 clinical manifestations.
