title: Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.
authors.affiliation: A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, Brescia, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Mazza
authors.forename: Fabio
authors.initials: F
authors.lastname: Buzi
authors.forename: Federica
authors.initials: F
authors.lastname: Ortolani
authors.forename: Alberto
authors.initials: A
authors.lastname: Vitali
authors.forename: Lucia D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Weber
authors.forename: Rosa
authors.initials: R
authors.lastname: Bacchetta
authors.forename: Annarosa
authors.initials: A
authors.lastname: Soresina
authors.forename: Vassilios
authors.initials: V
authors.lastname: Lougaris
authors.forename: Nella A
authors.initials: NA
authors.lastname: Greggio
authors.forename: Andrea
authors.initials: A
authors.lastname: Taddio
authors.forename: Srdjan
authors.initials: S
authors.lastname: Pasic
authors.forename: Monique
authors.initials: M
authors.lastname: de Vroede
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Pac
authors.forename: Sara Sebnem
authors.initials: SS
authors.lastname: Kilic
authors.forename: Sanal
authors.initials: S
authors.lastname: Ozden
authors.forename: Roberto
authors.initials: R
authors.lastname: Rusconi
authors.forename: Silvana
authors.initials: S
authors.lastname: Martino
authors.forename: Donatella
authors.initials: D
authors.lastname: Capalbo
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.forename: Giorgio
authors.initials: G
authors.lastname: Radetti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Maggiore
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Raffaele
authors.initials: R
authors.lastname: Badolato
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013997:Time Factors; D055815:Young Adult