Article
Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency.
The Journal of allergy and clinical immunology - 1 Jun 2024
Huang Xubo, Huang Jinxia, Li Xiumei, Fan Jingxian, Zhou Desheng, Qu Hui-Qi, Glessner Joseph T, Ji Dandan, Jia Qi, Ding Zhiyong, Wang Nan, Wei Wei, Lyu Xing, Li Mulin Jun, Liu Zhe, Liu Wei, Wei Yongjie, Hakonarson Hakon, Xia Qianghua, Li Jin
Abstract excerpt
BACKGROUND: CLEC16A intron 19 has been identified as a candidate locus for common variable immunodeficiency (CVID). OBJECTIVES: This study sought to elucidate the molecular mechanism by which variants at the CLEC16A intronic locus may contribute to the pathogenesis of CVID. METHODS: The investigators performed fine-mapping of the CLEC16A locus in a CVID cohort, then deleted the candidate functional SNP in T-cell...
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