title: [AIRE gene mutation in polyglandular syndrome type 1].
abstract: Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. It has recently been associated with mutations of a single gene found on chromosome 21, designated AutoImmune Regulator (AIRE). We report two patients with APS-1 referred to our hospital for evaluation. The first patient was an 11-year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis. Hypoparathyroidism associated with other processes with a probable autoimmune origin suggested APS-1. Genetic study was performed revealing deletion of 13 base pairs in exon 8 of the AIRE gene. The second patient was a 17-year-old girl with autoimmune hepatitis, hypoparathyroidism, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin. We suspected APS-1 and genetic study was performed. The only finding was an AIRE gene polymorphism. In conclusion, the presence of a single disease criterion is sufficient to suspect APS-1 and to indicate genetic study. Further studies are required to confirm the involvement of other genes in the development of this disease.
authors.affiliation: Servicio de Endocrinología Pediátrica, Hospital Universitario La Paz, Melchior Fernández Almagro 16, 11B, 28029 Madrid, Spain. martinezlopezmm@hotmail.com
authors.forename: Ma M
authors.initials: MM
authors.lastname: Martínez López
authors.forename: I
authors.initials: I
authors.lastname: González Casado
authors.forename: R
authors.initials: R
authors.lastname: Alvarez Doforno
authors.forename: E
authors.initials: E
authors.lastname: Delgado Cerviño
authors.forename: R
authors.initials: R
authors.lastname: Gracia Bouthelier
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein