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X. Zhao

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Open access Jul 2026

Biallelic GTF3A mutations underline a novel human combined immunodeficiency

Compound heterozygous mutations in GTF3A, encoding transcription factor IIIA, are identified in a patient with CID presenting with profound T-cell lymphopenia, diminished thymic output, and humoral failure, establishing deficiency of GTF3A resulting in combined immunodeficiency (DoGCID) within the spectrum of ribosomop...

L. Yu, H. Li, Q. Wei et al. · 0 citations

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