Article

Biallelic GTF3A mutations underline a novel human combined immunodeficiency

2026-07-27

Abstract excerpt

Ribosome biogenesis defects are increasingly recognized in hematologic disorders, yet their contribution to human combined immunodeficiency (CID) remains largely unexplored. Here, we identify compound heterozygous mutations in GTF3A, encoding transcription factor IIIA (TFIIIA), in a patient with CID presenting with profound T-cell lymphopenia, diminished thymic output, and humoral failure. The patient-derived TFII...

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Literature Corpus work: 5d0187a5-265f-5dfe-be7a-a481deddb9b2
DOI: 10.64898/2026.07.24.26358408

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