Cargando…

A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians

RATIONALE: Autoimmune polyendocrine syndrome type 1 (APS-1), also referred as the autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), is a rare autosomal inherited disease predominantly among Caucasians from Northern Europe. This syndrome is very rare in East Asian population. P...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yan, Zi, Gang, Xiaokun, Xie, Xiaona, Gao, Ying, Li, Zhuo, Wang, Guixia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	4300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440052/ https://www.ncbi.nlm.nih.gov/pubmed/32358377 http://dx.doi.org/10.1097/MD.0000000000020000

Ejemplares similares

Eight rare urinary disorders in a patient with Kallmann syndrome: A case report
por: Tian, Huining, et al.
Publicado: (2020)

A cross-sectional study: Associations between sarcopenia and clinical characteristics of patients with type 2 diabetes
por: Cui, Mengzhao, et al.
Publicado: (2020)

A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1
por: Qian, Guofeng, et al.
Publicado: (2022)

Ectopic insulinoma diagnosed by (68)Ga-Exendin-4 PET/CT: A case report and review of literature
por: Zhang, Xiaona, et al.
Publicado: (2021)

Adolescent Anxiety or Polyendocrine Autoimmunity?
por: Smith, Whitney N., et al.
Publicado: (2020)

Effects of bariatric surgery in Chinese with obesity and type 2 diabetes mellitus: A 3-year follow-up
por: Zuo, Didi, et al.
Publicado: (2020)

Autoimmune polyglandular syndrome type III associated with antineutrophil cytoplasmic autoantibody-mediated crescentic glomerulonephritis: A case report and literature review
por: Tian, Shiyuan, et al.
Publicado: (2020)

New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1
por: Mora, Mireia, et al.
Publicado: (2014)

PICU treatment of 3 cases of pediatric thyroid storm: Case series and literature review
por: Li, Xinyao, et al.
Publicado: (2022)

Carney complex with PRKAR1A gene mutation: A case report and literature review
por: Liu, Qiuli, et al.
Publicado: (2017)

Acute pancreatitis as an initial manifestation of parathyroid carcinoma: A case report and literature review
por: Gao, Yuan, et al.
Publicado: (2017)

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report
por: Tang, Yuchen, et al.
Publicado: (2020)

C.487C>T mutation in PAX4 gene causes MODY9: A case report and literature review
por: Zhang, Di, et al.
Publicado: (2022)

Autoimmune Polyendocrine Syndromes in the Pediatric Age
por: Paparella, Roberto, et al.
Publicado: (2023)

A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1
por: Zhang, Junyu, et al.
Publicado: (2013)

Insulin autoimmune syndrome in a pregnant female: A rare case report
por: Zeng, Xiang Xia, et al.
Publicado: (2017)

Safety and efficiency of SGLT2 inhibitor combining with insulin in subjects with diabetes: Systematic review and meta-analysis of randomized controlled trials
por: Yang, Yingying, et al.
Publicado: (2017)

Statins Can Delay Insulin Use and Reduce Diabetes-related Diseases in Asian Patients With Type 2 Diabetes
por: Chen, Hsin-Hung, et al.
Publicado: (2015)

Hyperthyroidism-associated hypercalcemic crisis: A case report and review of the literature
por: Chen, Ke, et al.
Publicado: (2017)

Autoimmune polyendocrine syndromes associated with autoimmune rheumatic diseases
por: Jankowska, Katarzyna, et al.
Publicado: (2023)

Lower Serum 25-Hydroxyvitamin D Level is Associated With 3 Types of Autoimmune Thyroid Diseases
por: Ma, Jie, et al.
Publicado: (2015)

A case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation?
por: Chaves, Carolina, et al.
Publicado: (2021)

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature
por: Guo, Qing-Hua, et al.
Publicado: (2016)

Myopathy after rapid correction of hyperthyroidism: A case report and review of literature
por: Lu, Ran, et al.
Publicado: (2020)

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
por: Suh, Junghwan, et al.
Publicado: (2019)

Delayed diagnosis with autoimmune polyglandular syndrome type 2 causing acute adrenal crisis: A case report
por: Wang, Xiaojing, et al.
Publicado: (2016)

The Effect of Subclinical Maternal Thyroid Dysfunction and Autoimmunity on Intrauterine Growth Restriction: A Systematic Review and Meta-Analysis
por: Tong, Zhao, et al.
Publicado: (2016)

Case report: hypoglycemia secondary to methimazole-induced insulin autoimmune syndrome in young Taiwanese woman with Graves’ disease
por: Wu, Hsuan-Yu, et al.
Publicado: (2022)

Pituicytoma Coexisting With Corticotroph Hyperplasia: Literature Review With One Case Report
por: Guo, Xiaopeng, et al.
Publicado: (2016)

Prevalence and Characterization of Somatic Mutations in Chinese Aldosterone-Producing Adenoma Patients
por: Wang, Baojun, et al.
Publicado: (2015)

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families
por: Liu, Qiuli, et al.
Publicado: (2017)

Central diabetes insipidus unveiled by glucocorticoid therapy in a patient with an empty sella: A case report and literature review
por: Yang, Lei-Yi, et al.
Publicado: (2020)

Schwannoma in Sellar Region Mimics Invasive Pituitary Macroadenoma: Literature Review With One Case Report
por: Kong, Xiangyi, et al.
Publicado: (2016)

Dietary supplements for prediabetes: A protocol for a systematic review and meta-analysis
por: Liu, Dongying, et al.
Publicado: (2020)

Serum Phosphorylated Neurofilament-Heavy Chain, a Potential Biomarker, is Associated With Peripheral Neuropathy in Patients With Type 2 Diabetes
por: Qiao, Xiaona, et al.
Publicado: (2015)

First case report of an adrenocortical carcinoma caused by a BRCA2 mutation
por: El Ghorayeb, Nada, et al.
Publicado: (2016)

The feasibility and efficacy of a community-based multifactorial intervention to improve the cardiovascular risk factor control among patients with type 2 diabetes: A 2-year cluster randomized trial
por: Zhao, Wenhui, et al.
Publicado: (2022)

Primary undifferentiated pleomorphic sarcoma of the thyroid: A case report and review of the literature
por: Chen, Qiang, et al.
Publicado: (2018)

Pituitary stalk interruption syndrome: A rare case report and literature review
por: Zhang, Wei, et al.
Publicado: (2020)

Parathyroid adenoma presenting as chronic pancreatitis: A case report and literature review
por: Fu, Chih-Hsuan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_l3o698qkgnkgac87h63fg71n0u