Article
Two novel STAT1 mutations cause Mendelian susceptibility to mycobacterial disease.
Biochemical and biophysical research communications - 5 Feb 2022
Liu Zhenxing, Zhou Mi, Yuan Chao, Ni Zhengyi, Liu Wenqiang, Tan Yang, Zhang Dazhi, Zhou Xiaopei, Zou Tingting, Wang Jiarui, Hou Meiqi, Peng Xuejie, Zhang Xianqin
Abstract excerpt
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare monogenetic disease, which is characterized by susceptibility to some weakly virulent mycobacteria. Here, we explored the pathogenic genes and molecular mechanisms of MSMD patients. We recruited three patients diagnosed with MSMD from two families. Two novel mutations (c.1228A > G, p.K410E and c.2071A > G, p.M691V) in STAT1 gene were identified...
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