Article
Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.
Journal of clinical immunology - 17 May 2024
Shi Xiaoqi, Cao Xiuli, Huang Meiying, Zhang Pingping, Yang Guangli, Ren Aiyan, Dai Xin, Chen Ran, Yang Zhigang, Cai Zeyuan, Chen Yan, Zhao Xiaodong, Huang Pei, Du Zuochen
Abstract excerpt
AIOLOS, a vital member of the IKAROS protein family, plays a significant role in lymphocyte development and function through DNA binding and protein-protein interactions. Mutations in the IKZF3 gene, which encodes AIOLOS, lead to a rare combined immunodeficiency often linked with infections and malignancy. In this study, we evaluated a 1-year-4-month-old female patient presenting with recurrent infections,...
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