Article
AIOLOS-Associated Inborn Errors of Immunity.
Journal of clinical immunology - 22 May 2024
Yamashita Motoi, Morio Tomohiro
Abstract excerpt
AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role in regulating lymphocyte development. Recently, heterozygous missense loss-of-function variants within the DNA-binding domain of the IKZF3 gene (G159R, N160S, and G191R) have been identified in patients with inborn errors of immunity (IEI). Additionally, a missense and a truncating variant...
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