Su Jinping, Liu Donghua
Department of Dermatology/Venerology, the First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Australas J Dermatol. 2021 May;62(2):217-220. doi: 10.1111/ajd.13551. Epub 2021 Mar 19.
Blau syndrome (BS) is a rare monogenic disease caused by mutation of NOD2/CARD15 gene. A case of Blau syndrome in a 4-year-old Chinese boy c.1001G > A(p.R334Q) mutation in the NOD2 genes reported. Imaging revealed a nodule at the tip of the right lung.
布劳综合征（BS）是一种由NOD2/CARD15基因突变引起的罕见单基因疾病。报道了一名4岁中国男孩发生布劳综合征，其NOD2基因存在c.1001G>A（p.R334Q）突变。影像学检查显示右肺尖有一个结节。
