Annals of Pediatric Endocrinology & Metabolism

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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim

Ann Pediatr Endocrinol Metab. 2019;24(4):248-252. Published online December 31, 2019
DOI: https://doi.org/10.6065/apem.2019.24.4.248

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

Junghwan Suh, Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Jin-Sung Lee, Ho-Seong Kim

Annals of Pediatric Endocrinology & Metabolism. 2019;24(4):248-252

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A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

Alessandra Fierabracci, Carla Bizzarri, Alessia Palma, Annamaria Milillo, Emanuele Bellacchio, Marco Cappa

Gene. 2012;511(1):113-117

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A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

PLoS ONE. 2013;8(1):e53981

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Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1

Fatemeh Fardi Golyan, Nosrat Ghaemi, Mohammad Reza Abbaszadegan, Seyed Hossein Dehghan Manshadi, Rahim Vakili, Todd E. Druley, Hamid Reza Rahimi, Martha Ghahraman

Immunobiology. 2019;224(6):728-733

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New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Mireia Mora, Felicia A. Hanzu, Marta Pradas-Juni, Gloria B. Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo

PLoS ONE. 2014;9(7):e101616

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A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1

Guofeng Qian, Xiaoyi Yan, Junli Xuan, Danfeng Zheng, Zhiwen He, Jianguo Shen

Frontiers in Cell and Developmental Biology. 2022;10:

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Distinct Clinical Phenotype and Immunoreactivity in Japanese Siblings with Autoimmune Polyglandular Syndrome Type 1 (APS-1) Associated with Compound Heterozygous Novel AIRE Gene Mutations

Kazuhiko Kogawa, Jun Kudoh, Seiho Nagafuchi, Shouichi Ohga, Hitoshi Katsuta, Hiromi Ishibashi, Mine Harada, Toshiro Hara, Nobuyoshi Shimizu

Clinical Immunology. 2002;103(3):277-283

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Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of the SPTA1 Gene and Autoimmune Hepatitis in a Pediatric Patient

Yu-mei Qin, Yan-yun Chen, Lin Liao, Yang-yang Wu, Min Chen, Fa-quan Lin

. 2021;

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Abstract #1316116: A Novel AIRE Gene Mutation Presenting With Autoimmune Polyglandular Syndrome Type 1 and End-Stage Renal Disease: A Case Report

Abdullah Alshahrany, Ahmed Alghmdi

Endocrine Practice. 2022;28(12):S44-S45

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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri

Biomedicines. 2020;8(12):631

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