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

Maria Dominguez; Ellen Crushell; Tanja Ilmarinen; Eleanor McGovern; Sinead Collins; Ben Chang; Padraig Fleming; Alan D Irvine; Donal Brosnahan; Ismo Ulmanen; Nuala Murphy; Colm Costigan

doi:10.1515/jpem.2006.19.11.1343

PubMed · 17220063

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

Maria Dominguez·Ellen Crushell·Tanja Ilmarinen·Eleanor McGovern·Sinead Collins·Ben Chang·Padraig Fleming·Alan D Irvine·Donal Brosnahan·Ismo Ulmanen·Nuala Murphy·Colm Costigan

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Abstract

OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel. CONCLUSION: APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

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Adolescent Adult Alleles Child Child, Preschool Female Genetic Testing Humans Ireland Male Middle Aged Mutation Polyendocrinopathies, Autoimmune Prevalence Transcription Factors AIRE Protein Journal Article

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Maria Dominguez, Ellen Crushell, Tanja Ilmarinen, Eleanor McGovern, Sinead Collins, Ben Chang, Padraig Fleming, Alan D Irvine, Donal Brosnahan, Ismo Ulmanen, Nuala Murphy, Colm Costigan. 2006. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.. https://doi.org/10.1515/jpem.2006.19.11.1343

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