Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

Area of Science:

• Endocrinology
• Genetics
• Immunology

Background:

• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder.
• It is caused by mutations in the AIRE gene.
• Understanding its prevalence and clinical manifestations in specific populations is crucial for diagnosis and management.

Purpose of the Study:

• To determine the prevalence of APECED in Ireland.
• To identify the specific AIRE gene mutations present in the Irish APECED population.
• To describe the clinical features and disease spectrum of APECED in Ireland.

Main Methods:

• Patient identification through pediatricians and endocrinologists across Ireland.
• Establishment of a multidisciplinary clinic for patient assessment.
• AIRE gene analysis for affected individuals and family members.

Main Results:

• An Irish prevalence of 1:130,000 was established, with 31 patients identified from 19 families.
• Common clinical features included hypoparathyroidism (26 patients), adrenal insufficiency (21 patients), and ovarian failure (10/16).
• Three distinct AIRE gene mutations were identified, including one novel mutation; genetic analysis facilitated early diagnosis in some individuals.

Conclusions:

• APECED is a rare condition in Ireland.
• While endocrine involvement is significant, ectodermal dystrophy was not observed in this cohort.
• AIRE gene analysis proved valuable for confirming diagnoses and reassuring at-risk siblings.