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CRISPR-mediated functional mapping of IL2RG variants in primary human T cells predicts X-linked severe combined immunodeficiency

2026-04-29

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Distinguishing pathogenic from benign mutation is critical for genetic diagnosis. A CRISPR-targeted saturation genome editing (SGE) platform in primary human cells assessed 489 single nucleotide variants (SNVs) in exon 5 of IL2RG, the gene causing X-linked SCID. The functional impact was clearly defined for 470 variants, agreeing with 100% (18/18) of ClinVar-deposited benign or likely benign annotations, and 100%...

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Literature Corpus work: cd826383-db10-553a-96db-4381b2af6771
DOI: 10.64898/2026.04.27.26351884

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CRISPR-mediated functional mapping of <i>IL2RG</i> variants in primary human T cells predicts X-linked severe combined immunodeficiency

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