Article
Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation.
Stem cell research - 1 Dec 2019
Jin Hui, Yu Zhen, Navarengom Keron, Liu Yangtengyu, Dmitrieva Natalia, Hsu Amy P, Schwartzbeck Robin, Cudrici Cornelia, Ferrante Elisa A, Yang Dan, Holland Steven M, Freeman Alexandra F, Boehm Manfred, Chen Guibin
Abstract excerpt
Autosomal dominant Hyper IgE syndrome (AD-HIES), a rare immune deficiency affecting fewer than one per million people, is caused by heterozygous deleterious mutations in STAT3. STAT3 signaling plays crucial roles in basic cellular functions affecting broad aspects of cellular homeostasis. Accordingly, in addition to immunological deficits, patients experience severe multisystem non-immunological features. Human...
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