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


CONCLUSIONS
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.
Dominguez
Maria
M
Department of Endocrinology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Crushell
Ellen
E
Ilmarinen
Tanja
T
McGovern
Eleanor
E
Collins
Sinead
S
Chang
Ben
B
Fleming
Padraig
P
Irvine
Alan D
AD
Brosnahan
Donal
D
Ulmanen
Ismo
I
Murphy
Nuala
N
Costigan
Colm
C
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D015995:Prevalence; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
D014157:Transcription Factors; D000096927:AIRE Protein