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Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

2021-08-28

Abstract excerpt

The IKAROS family transcription factors regulate lymphocyte development. Loss-of-function variants in IKZF1 cause primary immunodeficiency, but IKAROS family members IKZF2 and IKZF3 have not yet been associated with immunodeficiency yet. Here, we describe a pedigree with a heterozygous truncating variant in IKZF2 , encoding the translational activator and repressor HELIOS which is highly expressed in regulatory T...

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Literature Corpus work: d0e0eded-068f-5501-9640-601092d24a4e
DOI: 10.1101/2021.08.25.21262015

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Loss-of-function mutation in <i>IKZF2</i> leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

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