一名具有基因定义的部分MYD88缺陷患者出现复发性念珠菌病和早发性胃癌。
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.
作者信息
Vogelaar Ingrid P, Ligtenberg Marjolijn J L, van der Post Rachel S, de Voer Richarda M, Kets C Marleen, Jansen Trees J G, Jacobs Liesbeth, Schreibelt Gerty, de Vries I Jolanda M, Netea Mihai G, Hoogerbrugge Nicoline
机构信息
Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
出版信息
Fam Cancer. 2016 Apr;15(2):289-96. doi: 10.1007/s10689-015-9859-z.
Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
胃癌由遗传和环境因素共同引起。一名终生患有复发性念珠菌病的女性在23岁时患上了弥漫型胃癌。通过全外显子组测序，我们在MYD88基因中鉴定出一个种系纯合错义变异。对外周血单个核细胞的免疫分析显示，在用白色念珠菌刺激后免疫反应受损，其特征是细胞因子白细胞介素-17产生缺陷。我们的数据表明，MYD88基因的遗传缺陷会导致免疫反应受损，并可能增加患胃癌的风险。
相似文献
Eur J Immunol. 2014-12-16
Pediatr Infect Dis J. 2015-9
J Infect Dis. 2004-8-1
引用本文的文献
Front Microbiol. 2024-5-23
BMC Cancer. 2023-12-21
Eur J Hum Genet. 2021-9
Cancers (Basel). 2019-9-11
J Med Genet. 2018-1-12
本文引用的文献
JAMA Oncol. 2015-4
PLoS Genet. 2014-10-23
Nature. 2014-7-23
Nucleic Acids Res. 2013-11-19
Eur J Immunol. 2012-12
Gastroenterology. 2012-7-14
Zotero 插件