title: Clinical phenotypes of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years.
abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyendocrinopathy syndrome type 1, is a rare autosomal recessive disorder with a variable and evolving phenotypic course. It is caused by mutations in the autoimmune regulator (AIRE) gene. APECED syndrome is diagnosed clinically by the presence of 2 from 3 major criteria; chronic mucocutaneous candidasis, primary hypoparathyroidism and primary adrenocortical insufficiency. Many of the patients develop all three before the age of 20 years. There is also a wide spectrum of other associated conditions including endocrine and non endocrine manifestations. This paper reviews the clinical phenotypes seen in the paediatric population of Northern Ireland during the last 30 years detailed from a retrospective review of clinical notes. Eight patients were identified with APECED and all patients were found to be homozygous for the c.964dell3 mutation. A wide clinical variation is apparent within APECED syndrome. Paediatricians should be vigilant of the diagnosis when they encounter any of the features described and consider the future development of associated diseases. In confirmed APECED syndrome, clinical and laboratory investigation is essential to initiate early treatment in the patient and other affected members of the family.
authors.affiliation: Department of Paediatric Endocrinology, Royal Belfast Hospital for Sick Children, Belfast BT12 6BE, UK. Sarinda_millar@yahoo.co.uk
authors.forename: Sarinda
authors.initials: S
authors.lastname: Millar
authors.forename: Dennis
authors.initials: D
authors.lastname: Carson
mesh_terms: D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009660:Northern Ireland / Q000453:epidemiology; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D000096927:AIRE Protein
chemical_list: D004247:DNA; D014157:Transcription Factors; D000096927:AIRE Protein
keywords: APECED; adrenal insufficiency; c.964dell3; candidiasis; hypoparathyroidism