J. Wu

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...