| 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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Increased Sampling Reveals Novel Lineages of Entamoeba: Consequences of Genetic Diversity and Host S...
Next Document: Early relapse in ALL is identified by time to leukemia in NOD/SCID mice and is characterized by a ge...