Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
| Autor: | Alberto Vitali, Federica Ortolani, Roberto Rusconi, Srdjan Pasic, Rosa Bacchetta, Fabio Buzi, Donatella Capalbo, Annarosa Soresina, Andrea Taddio, Vassilios Lougaris, Claudio Pignata, Lucia Dora Notarangelo, Mariacarolina Salerno, Małgorzata Pac, Giorgio Radetti, Monique de Vroede, Giuseppe Maggiore, Silvana Martino, Sanal Ozden, Raffaele Badolato, Nella Augusta Greggio, Giovanna Weber, Cinzia Mazza, Alessandro Plebani, Sara Sebnem Kilic, Luigi D. Notarangelo |
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| Přispěvatelé: | Mazza, C., Buzi, Paola, Ortolani, F., Karabchuk, Vitali, Notarangelo, L. D., Weber, G., Bacchetta, R., Soresina, A., Lougaris, V., Greggio, N., Taddio, A., Pasic, S., de Vroede, M., Pac, M., Kilic, S. S., Ozden, S., Rusconi, R., Martino, S., Capalbo, D., Salerno, M., Pignata, C., Radetti, G., Maggiore, G., Plebani, A., Notarangelo, Ld., Badolato, R., Çocuk Sağlığı ve Hastalıkları, Buzi, F., Vitali, A., Greggio, N. A., Taddio, Andrea, Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., Kılıç, Sara Şebnem, AAH-1658-2021, Mazza, C, Buzi, F, Ortolani, F, Vitali, A, Notarangelo, Ld, Weber, Giovanna, Bacchetta, R, Soresina, A, Lougaris, V, Greggio, Na, Taddio, A, Pasic, S, de Vroede, M, Pac, M, Kilic, S, Ozden, S, Rusconi, R, Martino, S, Capalbo, D, Salerno, M, Pignata, C, Radetti, G, Maggiore, G, Plebani, A |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Time Factors
Autoimmunity Endocrinopathy Disease Type-1 medicine.disease_cause Mucocutaneous Candidiasis Homozygosity Genetic heterogeneity 0302 clinical medicine Immunology and Allergy Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Chronic mucocutaneous candidiasis Child Polyendocrinopathies Autoimmune Priority journal 0303 health sciences Heterozygosity Candidiasis Genetic analysis Homozygote Autoimmune polyendocrinopathy Middle Aged Autoimmune regulator Common 3. Good health Child Preschool APECED diagnostic tool children Mutations diagnostic tool Human Adult Heterozygote animal structures Adolescent Clinical article Immunology Socio-culturale 030209 endocrinology & metabolism APECED DIAGNOSIS DIAGNOSIS Article 03 medical and health sciences Young Adult children medicine Humans Gene mutation Preschool Autoantibodies 030304 developmental biology Gene amplification Hepatitis business.industry Protein Dystrophy Disease type-ı medicine.disease Polyendocrinopathies Autoimmune regulator protein Preschool child Regulator aire gene Type 1 Autoimmune Polyendocrinopathy Syndrome Regulator Central Tolerance Mutation Genetic association School child business Autoimmune APECED |
| Zdroj: | Clinical Immunology; Vol 139 |
| Popis: | 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. Fondazione Cariplo Fondazione Telethon European Commission (FP7 HLH-cure) (201461) Ministry of Education, Universities and Research (MIUR) Research Projects of National Relevance (PRIN) (2007ACZMMZ_005) Seventh Framework Programme (201461) |
| Databáze: | OpenAIRE |
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