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A missense mutation in AIOLOS causes B cell deficiency by interfering with IKAROS

ABSTRACT: A missense mutation (G158R) in Ikzf3 gene resulted in defective generation of B cells in mice. Pre-B cells were profoundly decreased in homozygous mutant mice. Heterozygous mutant mice showed milder B cell developmental defects, and decreased B cells in the secondary lymphoid organs were observed. Ikzf3 encodes Aiolos, which makes heterodimer with Ikaros. Our findings indicate that the loss-of-function mutation in Aiolos hinders B cell development by interfering Ikaros' function via formation of heterodimers.

ORGANISM(S): Mus musculus

PROVIDER: GSE126778 | GEO | 2022/02/16

REPOSITORIES: GEO

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A Variant in Human AIOLOS Impairs Adaptive Immunity by Interfering with IKAROS

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