Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.
作者： Hassan Abolhassani , Araz Sabzevari , Majid Zaki-Dizaji , Gholamreza Azizi , Mahnaz Jamee
DOI: 10.1080/1744666X.2021.1925543
关键词:
摘要: Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare inborn immune error characterized by triad of chronic mucocutaneous (CMC), hypoparathyroidism (HP), and adrenal insufficiency (ADI).Methods: Literature search was conducted in PubMed, Web Science, Scopus databases using related keywords, included studies were systematically evaluated.Results: We reviewed 938 APECED patients the classic detected 57.3% (460 803) patients. CMC (82.5%) reported as earliest, HP (84.2%) most prevalent, ADI (72.2%) latest presentation within triad. A broad spectrum non-triad involvements has also been reported; mainly (64.5%), infections (58.7%), gastrointestinal disorders (52.0%), gonadal failure (42.0%), neurologic (36.4%), ocular manifestations (34.3%). significant positive correlation between certain tissue-specific autoantibodies particular including HP. Neutralizing at least 60.0% Nonsense and/or frameshift insertion-deletion mutations 73.8% with CMC, 70.9% HP, 74.6% primary ADI.Conclusion: Besides penetrance diversity, our review revealed diverse affected ethnicity (mainly from Italy followed Finland Ireland). can initially present adolescence 5.2% older than 18 years disease onset. According to variety clinical conditions, which majority appear gradually over time, management deserves separate analysis.
sci-hub.st 参考文章(45)
J Zlotogora, M S Shapiro, Polyglandular autoimmune syndrome type I among Iranian Jews. Journal of Medical Genetics. ,vol. 29, pp. 824- 826 ,(1992) , 10.1136/JMG.29.11.824
Filomena Cetani, Giuseppe Barbesino, Simona Borsari, Elena Pardi, Luisella Cianferotti, Aldo Pinchera, Claudio Marcocci, A Novel Mutation of the Autoimmune Regulator Gene in an Italian Kindred with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Acting in a Dominant Fashion and Strongly Cosegregating with Hypothyroid Autoimmune Thyroiditis The Journal of Clinical Endocrinology and Metabolism. ,vol. 86, pp. 4747- 4752 ,(2001) , 10.1210/JCEM.86.10.7884
Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing, A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1 PLoS ONE. ,vol. 8, pp. e53981- ,(2013) , 10.1371/JOURNAL.PONE.0053981
Pärt Peterson, Tõnis Org, Ana Rebane, Transcriptional regulation by AIRE: molecular mechanisms of central tolerance Nature Reviews Immunology. ,vol. 8, pp. 948- 957 ,(2008) , 10.1038/NRI2450
Eystein S Husebye, J Perheentupa, R Rautemaa, Olle Kämpe, None, Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I Journal of Internal Medicine. ,vol. 265, pp. 514- 529 ,(2009) , 10.1111/J.1365-2796.2009.02090.X
ASB Wolff, AK Sarkadi, L Maródi, J Kärner, E Orlova, BEV Oftedal, K Kisand, E Oláh, A Meloni, AG Myhre, ES Husebye, R Motaghedi, J Perheentupa, P Peterson, N Willcox, A Meager, None, Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood Journal of Clinical Immunology. ,vol. 33, pp. 1341- 1348 ,(2013) , 10.1007/S10875-013-9938-6
Maria Cristina Rosatelli, Alessandra Meloni, Antonella Meloni, Marcella Devoto, Antonio Cao, Hamish S Scott, Pärt Peterson, Maarit Heino, Kai JE Krohn, Kentaro Nagamine, Jun Kudoh, Nobuyoshi Shimizu, Stylianos E Antonarakis, Group 1: Maria Cristina Rosatelli· Alessandra Meloni Antonella Meloni· Marcella Devoto· Antonio Cao Group 2: Hamish S. Scott· Pärt Peterson Maarit Heino· Kai JE Krohn· Kentaro Nagamine Jun Kudoh· Nobuyoshi Shimizu Stylianos E. Antonarakis, A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Human Genetics. ,vol. 103, pp. 428- 434 ,(1998) , 10.1007/S004390050846
Mireia Mora, Felicia A. Hanzu, Marta Pradas-Juni, Gloria B. Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo, New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1 PLoS ONE. ,vol. 9, pp. e101616- ,(2014) , 10.1371/JOURNAL.PONE.0101616
Mohammad Alimohammadi, Noémie Dubois, Filip Sköldberg, Åsa Hallgren, Isabelle Tardivel, Håkan Hedstrand, Jan Haavik, Eystein S Husebye, Jan Gustafsson, Fredrik Rorsman, Antonella Meloni, Christer Janson, Bernard Vialettes, Merja Kajosaari, William Egner, Ravishankar Sargur, Fredrik Pontén, Zahir Amoura, Alain Grimfeld, Filippo De Luca, Corrado Betterle, Jaakko Perheentupa, Olle Kämpe, Jean-Claude Carel, Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen Proceedings of the National Academy of Sciences of the United States of America. ,vol. 106, pp. 4396- 4401 ,(2009) , 10.1073/PNAS.0809986106
Johanna Aaltonen, Petra Björses, Lodewijk Sandkuijl, Jaakko Perheentupa, Leena Peltonen, An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genetics. ,vol. 8, pp. 83- 87 ,(1994) , 10.1038/NG0994-83