Document Detail


Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
MedLine Citation:
PMID:  21295522     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Cinzia Mazza; Fabio Buzi; Federica Ortolani; Alberto Vitali; Lucia D Notarangelo; Giovanna Weber; Rosa Bacchetta; Annarosa Soresina; Vassilios Lougaris; Nella A Greggio; Andrea Taddio; Srdjan Pasic; Monique de Vroede; Malgorzata Pac; Sara Sebnem Kilic; Sanal Ozden; Roberto Rusconi; Silvana Martino; Donatella Capalbo; Mariacarolina Salerno; Claudio Pignata; Giorgio Radetti; Giuseppe Maggiore; Alessandro Plebani; Luigi D Notarangelo; Raffaele Badolato
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-02-03
Journal Detail:
Title:  Clinical immunology (Orlando, Fla.)     Volume:  139     ISSN:  1521-7035     ISO Abbreviation:  Clin. Immunol.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-28     Completed Date:  2011-06-01     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  100883537     Medline TA:  Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  6-11     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
Affiliation:
A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, Brescia, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Heterozygote
Homozygote
Humans
Middle Aged
Mutation
Polyendocrinopathies, Autoimmune / diagnosis*,  genetics,  pathology
Time Factors
Young Adult
Grant Support
ID/Acronym/Agency:
TGT06A03//Telethon

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